18-77703382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703382
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703382
    reference: chr 18
allele count: 3
allele frequency: 2.475002475002475e-5
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*103G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.35G>A
  hgvsp: ENSP00000387221.1:p.Cys12Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.284G>A
  hgvsp: ENSP00000380880.2:p.Cys95Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.299G>A
  hgvsp: ENSP00000466491.1:p.Cys100Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.284G>A
  hgvsp: ENSP00000350188.3:p.Cys95Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.386G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.284G>A
  hgvsp: ENSP00000465546.1:p.Cys95Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.284G>A
  hgvsp: ENSP00000468427.1:p.Cys95Tyr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.943G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys95Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

18-77703386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703386
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703386
    reference: chr 18
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.280C>T
  hgvsp: ENST00000593030.2:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.280C>T
  hgvsp: ENST00000590381.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.280C>T
  hgvsp: ENST00000357575.4:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.280C>T
  hgvsp: ENST00000397778.2:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.31C>T
  hgvsp: ENST00000409073.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*99C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.295C>T
  hgvsp: ENST00000478144.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.939C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.382C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu94Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

18-77703395-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703395
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703395
    reference: chr 18
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.271A>T
  hgvsp: ENSP00000465546.1:p.Met91Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.271A>T
  hgvsp: ENSP00000468427.1:p.Met91Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*204A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*204A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.22A>T
  hgvsp: ENSP00000387221.1:p.Met8Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.271A>T
  hgvsp: ENSP00000350188.3:p.Met91Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*90A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*143A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.271A>T
  hgvsp: ENSP00000380880.2:p.Met91Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.286A>T
  hgvsp: ENSP00000466491.1:p.Met96Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.373A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.930A>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met91Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

18-77703397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703397
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703397
    reference: chr 18
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.269T>C
  hgvsp: ENSP00000465546.1:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.284T>C
  hgvsp: ENSP00000466491.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.371T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.269T>C
  hgvsp: ENSP00000350188.3:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*202T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*141T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.269T>C
  hgvsp: ENSP00000468427.1:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.269T>C
  hgvsp: ENSP00000380880.2:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*88T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.928T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.20T>C
  hgvsp: ENSP00000387221.1:p.Leu7Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*202T>C
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu90Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-77703401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703401
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703401
    reference: chr 18
allele count: 12
allele frequency: 9.90115348438093e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.280C>T
  hgvsp: ENST00000478144.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*198C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.16C>T
  hgvsp: ENST00000409073.1:c.16C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.265C>T
  hgvsp: ENST00000590381.1:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.265C>T
  hgvsp: ENST00000593030.2:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*84C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.924C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.265C>T
  hgvsp: ENST00000357575.4:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*198C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.265C>T
  hgvsp: ENST00000397778.2:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.367C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu89Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

18-77703411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703411
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703411
    reference: chr 18
allele count: 4
allele frequency: 3.301038176506511e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.270C>T
  hgvsp: ENST00000478144.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.255C>T
  hgvsp: ENST00000397778.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.255C>T
  hgvsp: ENST00000357575.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.914C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.255C>T
  hgvsp: ENST00000590381.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.357C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.255C>T
  hgvsp: ENST00000593030.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*74C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.6C>T
  hgvsp: ENST00000409073.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile85Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

18-77703422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703422
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703422
    reference: chr 18
allele count: 4
allele frequency: 3.301746623964077e-5
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.244G>A
  hgvsp: ENSP00000350188.3:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*63G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.346G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.244G>A
  hgvsp: ENSP00000468427.1:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*177G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.244G>A
  hgvsp: ENSP00000465546.1:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.244G>A
  hgvsp: ENSP00000380880.2:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*177G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.903G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.259G>A
  hgvsp: ENSP00000466491.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala82Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

18-77703433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703433
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703433
    reference: chr 18
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.233T>C
  hgvsp: ENSP00000465546.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.248T>C
  hgvsp: ENSP00000466491.1:p.Leu83Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.233T>C
  hgvsp: ENSP00000380880.2:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.233T>C
  hgvsp: ENSP00000350188.3:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*105T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*166T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*52T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.233T>C
  hgvsp: ENSP00000468427.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*166T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.892T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.335T>C
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu78Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

18-77703434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703434
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703434
    reference: chr 18
allele count: 105
allele frequency: 8.67195242814668e-4
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.232C>T
  hgvsp: ENST00000357575.4:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.232C>T
  hgvsp: ENST00000593030.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.232C>T
  hgvsp: ENST00000590381.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.247C>T
  hgvsp: ENST00000478144.1:c.247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.232C>T
  hgvsp: ENST00000397778.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.891C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.334C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu78Leu
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

18-77703439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703439
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703439
    reference: chr 18
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.227C>T
  hgvsp: ENSP00000465546.1:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.329C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.242C>T
  hgvsp: ENSP00000466491.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.227C>T
  hgvsp: ENSP00000380880.2:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.227C>T
  hgvsp: ENSP00000350188.3:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.227C>T
  hgvsp: ENSP00000468427.1:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*99C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*46C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.886C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro76Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

18-77703440-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703440
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703440
    reference: chr 18
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.226C>G
  hgvsp: ENSP00000468427.1:p.Pro76Ala
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*98C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.226C>G
  hgvsp: ENSP00000350188.3:p.Pro76Ala
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*159C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.241C>G
  hgvsp: ENSP00000466491.1:p.Pro81Ala
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.226C>G
  hgvsp: ENSP00000380880.2:p.Pro76Ala
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*159C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.226C>G
  hgvsp: ENSP00000465546.1:p.Pro76Ala
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*45C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.328C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.885C>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro76Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-77703452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703452
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703452
    reference: chr 18
allele count: 3
allele frequency: 2.483443708609272e-5
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.214C>T
  hgvsp: ENSP00000380880.2:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.214C>T
  hgvsp: ENSP00000465546.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.214C>T
  hgvsp: ENSP00000468427.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.873C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.229C>T
  hgvsp: ENSP00000466491.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.214C>T
  hgvsp: ENSP00000350188.3:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.316C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg72Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

18-77703456-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703456
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703456
    reference: chr 18
allele count: 6
allele frequency: 4.970178926441352e-5
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*143A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*82A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.869A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.225A>C
  hgvsp: ENST00000478144.1:c.225A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.210A>C
  hgvsp: ENST00000590381.1:c.210A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.210A>C
  hgvsp: ENST00000593030.2:c.210A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*29A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.210A>C
  hgvsp: ENST00000397778.2:c.210A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.312A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-40A>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.210A>C
  hgvsp: ENST00000357575.4:c.210A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*143A>C
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

18-77703466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703466
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703466
    reference: chr 18
allele count: 416
allele frequency: 3.456240341636065e-3
allele num: 120362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.859G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-4G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-4G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 9.75e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.204-4G>A
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

18-77703467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703467
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703467
    reference: chr 18
allele count: 4
allele frequency: 3.322479898996611e-5
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-5C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.858C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.204-5C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

18-77703471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703471
    reference: chr 18
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.854C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-9C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-9C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

18-77703475-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703475
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703475
    reference: chr 18
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.850G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-13G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-13G>C
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

18-77703475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703475
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703475
    reference: chr 18
allele count: 50
allele frequency: 4.160495265356388e-4
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.850G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-13G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-13G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

18-77703476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703476
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703476
    reference: chr 18
allele count: 35054
allele frequency: 2.918005494048114e-1
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-14T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.849T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-14T>C
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 6.75e1
  variant carriers: 1465
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 1873
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 1000
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 607
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 5.75e1
  variant carriers: 1001
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.25e1
  variant carriers: 1999
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.75e1
  variant carriers: 828
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.25e1
  variant carriers: 832
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.75e1
  variant carriers: 684
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.75e1
  variant carriers: 1859
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 7.25e1
  variant carriers: 1739
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 1270
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 8.75e1
  variant carriers: 1914
genotype quality: GenotypeQuality
num of homozygotes: 5229
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-77703477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703477
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703477
    reference: chr 18
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.848G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-15G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-15G>C
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

18-77703478-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703478
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703478
    reference: chr 18
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-16A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.847A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-16A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

18-77703479-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703479
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703480
    reference: chr 18
allele count: 4
allele frequency: 3.352217491870872e-5
allele num: 119324
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.845dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-18dupA
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-18dupA
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

18-77703480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703480
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703480
    reference: chr 18
allele count: 119
allele frequency: 9.971677085253649e-4
allele num: 119338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.845A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-18A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-18A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 3
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/18-77703491-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703491
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703491
    reference: chr 18
allele count: 1
allele frequency: 8.416658250008417e-6
allele num: 118812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.834T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-29T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-29T>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-77703492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703492
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703492
    reference: chr 18
allele count: 1
allele frequency: 8.416941620092923e-6
allele num: 118808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-30C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.833C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-30C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

18-77703502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703502
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703502
    reference: chr 18
allele count: 3
allele frequency: 2.535711267010396e-5
allele num: 118310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.823A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-40A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-40A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

18-77703509-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703509
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703509
    reference: chr 18
allele count: 3
allele frequency: 2.544097693351425e-5
allele num: 117920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-46-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.204-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*23-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.204-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  hgvsc: ENST00000466449.1:n.816A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.204-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*76-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*137-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  hgvsc: ENST00000494607.1:n.306-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.219-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.204-47A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*137-47A>T
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

18-77703509-TCTCCCAGTCCCGAACCTGCAGCGGGAGAGACCCGGGTCAGGAGGGAGGCCCACCCACGCCGCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77703509
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77703445
    reference: chr 18
allele count: 5
allele frequency: 4.240162822252374e-5
allele num: 117920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000466449
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl transcript: ENST00000494607
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
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: TCTCCCAGTCCCGAACCTGCAGCGGGAGAGACCCGGGTCAGGAGGGAGGCCCACCCACGCCGCCC
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

18-77709581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709581
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709581
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+1143A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+1143A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+1143A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+1143A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*74A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*74A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-47+106A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+1143A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*22+106A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/18-77709662-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709662
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709663
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+1061dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+1061dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-47+24dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-8dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-8dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+1061dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*22+24dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-27dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+1061dupT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+1061dupT
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: c.*-8dupT
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-77709685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709685
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709685
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 14
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+1039T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-30T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+1039T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+1039T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-47+2T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-30T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+1039T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.*22+2T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-49T>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+1039T>C
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: c.-47+2T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

18-77709709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709709
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709709
    reference: chr 18
allele count: 13
allele frequency: 5.0e-1
allele num: 26
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-69A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+1015A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-73A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+1015A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-54A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-54A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+1015A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+1015A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.224A>G
  hgvsp: ENST00000351365.3:c.224A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+1015A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.5e0
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ter75Ter
num of homozygotes: 3
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/18-77709780-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709780
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709780
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 12
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+944T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+944T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-144T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+944T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+944T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-140T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+944T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-125T>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.153T>G
  hgvsp: ENSP00000315627.6:p.Trp52Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-125T>G
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp52Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

18-77709831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709831
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709831
    reference: chr 18
allele count: 9
allele frequency: 3.461538461538461e-1
allele num: 26
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+893G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-191G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-176G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+893G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-195G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+893G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+893G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.102G>A
  hgvsp: ENSP00000315627.6:p.Val35Ile
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+893G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-176G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val35Ile
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-77709872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77709872
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77709872
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+852G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+852G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.95-34G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+852G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.204-236G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+852G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-198-34G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.*-217G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+852G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.*-217G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

18-77710673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710673
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710673
    reference: chr 18
allele count: 6
allele frequency: 5.162089613875697e-5
allele num: 116232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+51C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+51C>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

18-77710682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710682
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710682
    reference: chr 18
allele count: 1
allele frequency: 8.575740944017563e-6
allele num: 116608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+42A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+42A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-77710691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710691
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710691
    reference: chr 18
allele count: 6
allele frequency: 5.123825789923142e-5
allele num: 117100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+33C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

18-77710692-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710692
    reference: chr 18
allele count: 3
allele frequency: 2.558722685635331e-5
allele num: 117246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+32C>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

18-77710695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710695
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710695
    reference: chr 18
allele count: 1
allele frequency: 8.515421428206482e-6
allele num: 117434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

18-77710699-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710699
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710699
    reference: chr 18
allele count: 1
allele frequency: 8.485650764557135e-6
allele num: 117846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+25G>C
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+25G>C
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.75e1
  variant carriers: 1
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: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

18-77710703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710703
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710703
    reference: chr 18
allele count: 78
allele frequency: 6.599543108554023e-4
allele num: 118190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+21C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 31077
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20070
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-77710711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710711
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710711
    reference: chr 18
allele count: 80
allele frequency: 6.742633672712562e-4
allele num: 118648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+13C>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31430
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/18-77710712-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710712
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710712
    reference: chr 18
allele count: 1
allele frequency: 8.42516766083645e-6
allele num: 118692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+12G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+12G>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/18-77710713-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710713
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710713
    reference: chr 18
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+11G>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47711
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS

18-77710714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710714
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710714
    reference: chr 18
allele count: 4
allele frequency: 3.367456896551724e-5
allele num: 118784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+10G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-77710715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710715
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710715
    reference: chr 18
allele count: 1592
allele frequency: 1.339548659609915e-2
allele num: 118846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+9G>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30734
  bin: 2.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 20623
  bin: 2.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 12
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-77710716-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710716
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710716
    reference: chr 18
allele count: 2
allele frequency: 1.68239707935867e-5
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+8G>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.203+8G>T
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

18-77710721-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710721
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710721
    reference: chr 18
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-199+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.94+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.143+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.203+3A>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.203+3A>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

18-77710726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710726
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710726
    reference: chr 18
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.201C>T
  hgvsp: ENST00000474967.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.201C>T
  hgvsp: ENST00000593030.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-201C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.201C>T
  hgvsp: ENST00000589452.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.201C>T
  hgvsp: ENST00000357575.4:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.201C>T
  hgvsp: ENST00000397778.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.201C>T
  hgvsp: ENST00000591964.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.141C>T
  hgvsp: ENST00000478144.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.201C>T
  hgvsp: ENST00000590381.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.92C>T
  hgvsp: ENST00000351365.3:c.92C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.201C>T
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

18-77710729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710729
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710729
    reference: chr 18
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.138C>T
  hgvsp: ENST00000478144.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.198C>T
  hgvsp: ENST00000397778.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.198C>T
  hgvsp: ENST00000474967.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.198C>T
  hgvsp: ENST00000591964.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.198C>T
  hgvsp: ENST00000593030.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-204C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.89C>T
  hgvsp: ENST00000351365.3:c.89C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.198C>T
  hgvsp: ENST00000590381.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.198C>T
  hgvsp: ENST00000589452.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.198C>T
  hgvsp: ENST00000357575.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu66Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

18-77710734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710734
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710734
    reference: chr 18
allele count: 2
allele frequency: 1.676839492923737e-5
allele num: 119272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-209A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.133A>G
  hgvsp: ENSP00000466491.1:p.Ile45Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.193A>G
  hgvsp: ENSP00000380880.2:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.193A>G
  hgvsp: ENSP00000350188.3:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.193A>G
  hgvsp: ENSP00000468427.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.193A>G
  hgvsp: ENSP00000466423.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.193A>G
  hgvsp: ENSP00000468210.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.193A>G
  hgvsp: ENSP00000465546.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.84A>G
  hgvsp: ENSP00000315627.6:p.Ile29Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.193A>G
  hgvsp: ENSP00000467705.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile65Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/18-77710738-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710738
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710736
    reference: chr 18
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.187_188delTT
  hgvsp: ENSP00000468210.1:p.Leu63AlafsTer40
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.187_188delTT
  hgvsp: ENSP00000467705.1:p.Leu63AlafsTer25
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.187_188delTT
  hgvsp: ENSP00000380880.2:p.Leu63AlafsTer11
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.187_188delTT
  hgvsp: ENSP00000350188.3:p.Leu63AlafsTer11
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.187_188delTT
  hgvsp: ENSP00000468427.1:p.Leu63AlafsTer11
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.187_188delTT
  hgvsp: ENSP00000466423.1:p.Leu63AlafsTer40
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.127_128delTT
  hgvsp: ENSP00000466491.1:p.Leu43AlafsTer36
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-215_-214delTT
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.78_79delTT
  hgvsp: ENSP00000315627.6:p.Leu27AlafsTer47
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.187_188delTT
  hgvsp: ENSP00000465546.1:p.Leu63AlafsTer11
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu63AlafsTer11
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: CAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

18-77710743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710743
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710743
    reference: chr 18
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.184A>G
  hgvsp: ENSP00000380880.2:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.184A>G
  hgvsp: ENSP00000468210.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-218A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.184A>G
  hgvsp: ENSP00000465546.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.184A>G
  hgvsp: ENSP00000466423.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.75A>G
  hgvsp: ENSP00000315627.6:p.Ile26Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.184A>G
  hgvsp: ENSP00000467705.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.184A>G
  hgvsp: ENSP00000350188.3:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.124A>G
  hgvsp: ENSP00000466491.1:p.Ile42Val
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.184A>G
  hgvsp: ENSP00000468427.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile62Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

18-77710758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710758
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710758
    reference: chr 18
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.109C>T
  hgvsp: ENST00000478144.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.169C>T
  hgvsp: ENST00000591964.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.169C>T
  hgvsp: ENST00000357575.4:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.169C>T
  hgvsp: ENST00000593030.2:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.169C>T
  hgvsp: ENST00000590381.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.169C>T
  hgvsp: ENST00000474967.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.60C>T
  hgvsp: ENST00000351365.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.169C>T
  hgvsp: ENST00000397778.2:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.169C>T
  hgvsp: ENST00000589452.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-233C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu57Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

18-77710765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710765
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710765
    reference: chr 18
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.162C>T
  hgvsp: ENST00000593030.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.162C>T
  hgvsp: ENST00000474967.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.102C>T
  hgvsp: ENST00000478144.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.53C>T
  hgvsp: ENST00000351365.3:c.53C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.162C>T
  hgvsp: ENST00000397778.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.162C>T
  hgvsp: ENST00000357575.4:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.162C>T
  hgvsp: ENST00000591964.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.162C>T
  hgvsp: ENST00000589452.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-240C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.162C>T
  hgvsp: ENST00000590381.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys54Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

18-77710767-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710767
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710767
    reference: chr 18
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.160T>A
  hgvsp: ENSP00000465546.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.160T>A
  hgvsp: ENSP00000467705.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.160T>A
  hgvsp: ENSP00000466423.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.160T>A
  hgvsp: ENSP00000468427.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.51T>A
  hgvsp: ENSP00000315627.6:p.Cys18Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.160T>A
  hgvsp: ENSP00000468210.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.100T>A
  hgvsp: ENSP00000466491.1:p.Cys34Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.160T>A
  hgvsp: ENSP00000380880.2:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.160T>A
  hgvsp: ENSP00000350188.3:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-242T>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys54Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

18-77710768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710768
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710768
    reference: chr 18
allele count: 4
allele frequency: 3.35700018463501e-5
allele num: 119154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.159G>A
  hgvsp: ENST00000593030.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.99G>A
  hgvsp: ENST00000478144.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.159G>A
  hgvsp: ENST00000357575.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.159G>A
  hgvsp: ENST00000589452.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.50G>A
  hgvsp: ENST00000351365.3:c.50G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.159G>A
  hgvsp: ENST00000591964.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.159G>A
  hgvsp: ENST00000397778.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.159G>A
  hgvsp: ENST00000474967.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-243G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.159G>A
  hgvsp: ENST00000590381.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val53Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

18-77710771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710771
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710771
    reference: chr 18
allele count: 1
allele frequency: 8.397574780403419e-6
allele num: 119082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.156C>T
  hgvsp: ENST00000589452.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.156C>T
  hgvsp: ENST00000591964.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.96C>T
  hgvsp: ENST00000478144.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.156C>T
  hgvsp: ENST00000593030.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.156C>T
  hgvsp: ENST00000590381.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.156C>T
  hgvsp: ENST00000357575.4:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.156C>T
  hgvsp: ENST00000397778.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.47C>T
  hgvsp: ENST00000351365.3:c.47C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.156C>T
  hgvsp: ENST00000474967.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr52Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

18-77710772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710772
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710772
    reference: chr 18
allele count: 14
allele frequency: 1.175798703262002e-4
allele num: 119068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.155A>G
  hgvsp: ENSP00000468210.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.155A>G
  hgvsp: ENSP00000350188.3:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-247A>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.155A>G
  hgvsp: ENSP00000468427.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.155A>G
  hgvsp: ENSP00000467705.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.95A>G
  hgvsp: ENSP00000466491.1:p.Tyr32Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.155A>G
  hgvsp: ENSP00000380880.2:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.46A>G
  hgvsp: ENSP00000315627.6:p.Tyr16Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.155A>G
  hgvsp: ENSP00000465546.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.155A>G
  hgvsp: ENSP00000466423.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr52Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-77710777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710777
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710777
    reference: chr 18
allele count: 1
allele frequency: 8.416374899003501e-6
allele num: 118816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.150C>A
  hgvsp: ENST00000591964.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.150C>A
  hgvsp: ENST00000593030.2:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.150C>A
  hgvsp: ENST00000357575.4:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.41C>A
  hgvsp: ENST00000351365.3:c.41C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.150C>A
  hgvsp: ENST00000397778.2:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.150C>A
  hgvsp: ENST00000589452.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.90C>A
  hgvsp: ENST00000478144.1:c.90C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.150C>A
  hgvsp: ENST00000590381.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.150C>A
  hgvsp: ENST00000474967.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-252C>A
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

18-77710780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710780
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710780
    reference: chr 18
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.147C>T
  hgvsp: ENST00000591964.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.147C>T
  hgvsp: ENST00000357575.4:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.147C>T
  hgvsp: ENST00000397778.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.38C>T
  hgvsp: ENST00000351365.3:c.38C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.87C>T
  hgvsp: ENST00000478144.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.147C>T
  hgvsp: ENST00000589452.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.147C>T
  hgvsp: ENST00000590381.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.147C>T
  hgvsp: ENST00000593030.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.147C>T
  hgvsp: ENST00000474967.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-255C>T
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe49Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-77710791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710791
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710791
    reference: chr 18
allele count: 2
allele frequency: 1.697591118203269e-5
allele num: 117814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-266G>T
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.136G>T
  hgvsp: ENSP00000465546.1:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.136G>T
  hgvsp: ENSP00000468427.1:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.27G>T
  hgvsp: ENSP00000315627.6:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.136G>T
  hgvsp: ENSP00000468210.1:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.136G>T
  hgvsp: ENSP00000466423.1:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.136G>T
  hgvsp: ENSP00000380880.2:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.136G>T
  hgvsp: ENSP00000350188.3:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.136G>T
  hgvsp: ENSP00000467705.1:p.Ala46Ser
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.76G>T
  hgvsp: ENSP00000466491.1:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala46Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

18-77710796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710796
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710796
    reference: chr 18
allele count: 1
allele frequency: 8.53344256139812e-6
allele num: 117186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.131A>G
  hgvsp: ENSP00000465546.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.131A>G
  hgvsp: ENSP00000467705.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.131A>G
  hgvsp: ENSP00000466423.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.131A>G
  hgvsp: ENSP00000350188.3:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.131A>G
  hgvsp: ENSP00000468210.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.22A>G
  hgvsp: ENSP00000315627.6:p.Gln8Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.71A>G
  hgvsp: ENSP00000466491.1:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.131A>G
  hgvsp: ENSP00000380880.2:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.131A>G
  hgvsp: ENSP00000468427.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-271A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln44Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

18-77710805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710805
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710805
    reference: chr 18
allele count: 7
allele frequency: 6.061970660062005e-5
allele num: 115474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.13G>A
  hgvsp: ENSP00000315627.6:p.Arg5His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.122G>A
  hgvsp: ENSP00000467705.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.122G>A
  hgvsp: ENSP00000466423.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-280G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.122G>A
  hgvsp: ENSP00000468427.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.122G>A
  hgvsp: ENSP00000350188.3:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.122G>A
  hgvsp: ENSP00000468210.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.122G>A
  hgvsp: ENSP00000380880.2:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.62G>A
  hgvsp: ENSP00000466491.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.122G>A
  hgvsp: ENSP00000465546.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

18-77710806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710806
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710806
    reference: chr 18
allele count: 3
allele frequency: 2.598257435346694e-5
allele num: 115462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.12C>G
  hgvsp: ENSP00000315627.6:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.121C>G
  hgvsp: ENSP00000468210.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.61C>G
  hgvsp: ENSP00000466491.1:p.Arg21Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-281C>G
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.121C>G
  hgvsp: ENSP00000468427.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.121C>G
  hgvsp: ENSP00000350188.3:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.121C>G
  hgvsp: ENSP00000467705.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.121C>G
  hgvsp: ENSP00000380880.2:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.121C>G
  hgvsp: ENSP00000466423.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.121C>G
  hgvsp: ENSP00000465546.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg41Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

18-77710811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710811
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710811
    reference: chr 18
allele count: 3
allele frequency: 2.625774603508035e-5
allele num: 114252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.116A>G
  hgvsp: ENSP00000467705.1:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.116A>G
  hgvsp: ENSP00000468427.1:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.116A>G
  hgvsp: ENSP00000465546.1:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.7A>G
  hgvsp: ENSP00000315627.6:p.Asp3Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.116A>G
  hgvsp: ENSP00000466423.1:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.116A>G
  hgvsp: ENSP00000380880.2:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.56A>G
  hgvsp: ENSP00000466491.1:p.Asp19Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.116A>G
  hgvsp: ENSP00000468210.1:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.116A>G
  hgvsp: ENSP00000350188.3:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-286A>G
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp39Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

18-77710812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77710812
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77710812
    reference: chr 18
allele count: 1
allele frequency: 8.812591430636094e-6
allele num: 113474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000387221
  ensembl transcript: ENST00000409073
  gene symbol: PQLC1
  hgvsc: ENST00000409073.1:c.-287G>A
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466423
  ensembl transcript: ENST00000474967
  gene symbol: PQLC1
  hgvsc: ENST00000474967.1:c.115G>A
  hgvsp: ENSP00000466423.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000465546
  ensembl transcript: ENST00000590381
  gene symbol: PQLC1
  hgvsc: ENST00000590381.1:c.115G>A
  hgvsp: ENSP00000465546.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000350188
  ensembl transcript: ENST00000357575
  gene symbol: PQLC1
  hgvsc: ENST00000357575.4:c.115G>A
  hgvsp: ENSP00000350188.3:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468427
  ensembl transcript: ENST00000593030
  gene symbol: PQLC1
  hgvsc: ENST00000593030.2:c.115G>A
  hgvsp: ENSP00000468427.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000380880
  ensembl transcript: ENST00000397778
  gene symbol: PQLC1
  hgvsc: ENST00000397778.2:c.115G>A
  hgvsp: ENSP00000380880.2:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000315627
  ensembl transcript: ENST00000351365
  gene symbol: PQLC1
  hgvsc: ENST00000351365.3:c.6G>A
  hgvsp: ENSP00000315627.6:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000466491
  ensembl transcript: ENST00000478144
  gene symbol: PQLC1
  hgvsc: ENST00000478144.1:c.55G>A
  hgvsp: ENSP00000466491.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000468210
  ensembl transcript: ENST00000589452
  gene symbol: PQLC1
  hgvsc: ENST00000589452.1:c.115G>A
  hgvsp: ENSP00000468210.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122490
  ensembl protein: ENSP00000467705
  ensembl transcript: ENST00000591964
  gene symbol: PQLC1
  hgvsc: ENST00000591964.1:c.115G>A
  hgvsp: ENSP00000467705.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/26188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp39Asn
num of homozygotes: 0
population: Latino
reference allele: C

GenotypeDepth
all individuals: 3952
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3763
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3059
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48052
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.442e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 4.352715e6

GenotypeDepth
all individuals: 3952
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3763
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48051
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 943
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.808999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 1.175e0

DP
type: SiteQuality
SIO_000300: 4.352394e6

GenotypeDepth
all individuals: 3700
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3952
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3550
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48052
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
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SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
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SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 4.352267e6

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7082
bin: 6.25e1
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GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 4.352054e6

QD
type: SiteQuality
SIO_000300: 9.49e0

ClippingRankSum
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SIO_000300: 4.9e-2

BaseQRankSum
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SIO_000300: -1.378e0

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.434e0

MQRankSum
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SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeQuality
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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: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.652048540189835e-4
allele num: 66584
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 4.351921e6

MQRankSum
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SIO_000300: 6.23e-1

ReadPosRankSum
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SIO_000300: 3.89e-1

BaseQRankSum
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SIO_000300: -5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00943481265587e-5
allele num: 66562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.473e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.734e0

FS
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 4.350265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48049
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.753e0

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

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 104

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

South Asian
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allele count: 92
allele frequency: 5.593385214007782e-3
allele num: 16448
num of homozygotes: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.503307276007216e-4
allele num: 66520
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e0

DP
type: SiteQuality
SIO_000300: 4.343029e6

QD
type: SiteQuality
SIO_000300: 2.754e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 2.237e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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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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GenotypeQuality
all individuals: 48046
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
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SIO_000300: 1.205e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.318e0

DP
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SIO_000300: 4.341905e6

VQSLOD
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SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 6061
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010959894014212e-5
allele num: 66424
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.336007e6

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 2.616e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
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SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 3062
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

European (Finnish)
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: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.333018e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 2.786e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeDepth
all individuals: 1676
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3363
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variant carriers: 17

GenotypeDepth
all individuals: 3769
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variant carriers: 16

GenotypeDepth
all individuals: 1505
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variant carriers: 1

GenotypeDepth
all individuals: 2445
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GenotypeQuality
all individuals: 849
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GenotypeQuality
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GenotypeQuality
all individuals: 48072
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variant carriers: 414

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.209555488358028e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.780346820809249e-4
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 396
allele frequency: 5.977358490566038e-3
allele num: 66250
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
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MQ
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SIO_000300: 5.973e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 2.036e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 4.322825e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018139015483053e-5
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: -1.976e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 237
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
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SIO_000300: 1.74e-2

FS
type: SiteQuality
SIO_000300: 3.649e0

DP
type: SiteQuality
SIO_000300: 4.302876e6

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 954
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

European (Finnish)
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: 898
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 50
allele frequency: 3.146237100427888e-3
allele num: 15892
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
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SIO_000300: -1.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

FS
type: SiteQuality
SIO_000300: 3.649e0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

DP
type: SiteQuality
SIO_000300: 4.302876e6

GenotypeDepth
all individuals: 12753
bin: 9.75e1
variant carriers: 10501

GenotypeDepth
all individuals: 1154
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variant carriers: 793

GenotypeQuality
all individuals: 417
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variant carriers: 60

GenotypeQuality
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variant carriers: 44

GenotypeQuality
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variant carriers: 71

GenotypeQuality
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GenotypeQuality
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variant carriers: 93

GenotypeQuality
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variant carriers: 29012

GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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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: 16

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 62

GenotypeQuality
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bin: 1.25e1
variant carriers: 11

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 823
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variant carriers: 89

GenotypeQuality
all individuals: 290
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variant carriers: 17

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 30

East Asian
type: Population
allele count: 2647
allele frequency: 3.075761096909133e-1
allele num: 8606
num of homozygotes: 384

Latino
type: Population
allele count: 2852
allele frequency: 2.46755494030109e-1
allele num: 11558
num of homozygotes: 343

Other
type: Population
allele count: 264
allele frequency: 2.939866369710468e-1
allele num: 898
num of homozygotes: 43

African
type: Population
allele count: 2854
allele frequency: 2.748988634174533e-1
allele num: 10382
num of homozygotes: 394

European (Finnish)
type: Population
allele count: 1291
allele frequency: 1.953692493946731e-1
allele num: 6608
num of homozygotes: 129

European (Non-Finnish)
type: Population
allele count: 20255
allele frequency: 3.060407349208268e-1
allele num: 66184
num of homozygotes: 3160

South Asian
type: Population
allele count: 4891
allele frequency: 3.077261859821316e-1
allele num: 15894
num of homozygotes: 776

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

FS
type: SiteQuality
SIO_000300: 3.052e0

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.661e1

DP
type: SiteQuality
SIO_000300: 4.26242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

GenotypeDepth
all individuals: 5651
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variant carriers: 1

GenotypeDepth
all individuals: 2501
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variant carriers: 0

GenotypeQuality
all individuals: 1670
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variant carriers: 0

GenotypeQuality
all individuals: 43339
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 611
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GenotypeQuality
all individuals: 1874
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 835
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GenotypeQuality
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GenotypeQuality
all individuals: 1042
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GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

European (Finnish)
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: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
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SIO_000300: -1.954e0

ClippingRankSum
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SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 3.374012e6

FS
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 379
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1042
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GenotypeQuality
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GenotypeQuality
all individuals: 632
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GenotypeQuality
all individuals: 1415
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GenotypeQuality
all individuals: 2088
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.665e1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
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FS
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SIO_000300: 3.864e0

DP
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VQSLOD
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SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 1601
bin: 8.25e1
variant carriers: 0

European (Finnish)
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: 10362
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.074596039363382e-5
allele num: 65848
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

DP
type: SiteQuality
SIO_000300: 3.369612e6

InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeDepth
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bin: 7.75e1
variant carriers: 7

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1871
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GenotypeQuality
all individuals: 830
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 117
allele frequency: 7.573795960642155e-3
allele num: 15448
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

MQRankSum
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SIO_000300: 1.58e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 1592
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523090045083465e-5
allele num: 65656
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.543e0

FS
type: SiteQuality
SIO_000300: 1.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -6.012999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 3.352766e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1381
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65646
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.349e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.573e0

BaseQRankSum
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SIO_000300: -1.832e0

InbreedingCoeff
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SIO_000300: 7.0e-4

DP
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SIO_000300: 3.352573e6

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.881e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1036
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variant carriers: 0

South Asian
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allele count: 3
allele frequency: 2.021563342318059e-4
allele num: 14840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 6.5e-1

BaseQRankSum
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SIO_000300: -2.055e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 3.342931e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 918
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.598752598752599e-4
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 5.938e0

QD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
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SIO_000300: -1.35e0

VQSLOD
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SIO_000300: -1.724e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 3.337941e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1034
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65354
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.427944604415193e-4
allele num: 14586
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

Latino
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Other
type: Population
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East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
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SIO_000300: -1.35e0

ClippingRankSum
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SIO_000300: 9.88e-1

FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 4
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VQSLOD
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
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allele num: 0
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South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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African
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Other
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East Asian
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allele frequency: NaN
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.671e3

FS
type: SiteQuality
SIO_000300: 2.463e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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South Asian
type: Population
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allele frequency: NaN
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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Other
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
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FS
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
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SIO_000300: -1.231e0

DP
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SIO_000300: 8.334e3

QD
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ReadPosRankSum
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SIO_000300: -3.58e-1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 9

European (Finnish)
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allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

South Asian
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allele frequency: NaN
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Other
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allele frequency: NaN
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East Asian
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allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 10
allele frequency: 5.0e-1
allele num: 20
num of homozygotes: 2

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

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

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

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

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

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

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

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

Other
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allele frequency: NaN
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.5579e4

VQSLOD
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BaseQRankSum
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SIO_000300: -7.31e-1

InbreedingCoeff
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SIO_000300: -1.123e-1

FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 5

European (Non-Finnish)
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allele count: 7
allele frequency: 4.375e-1
allele num: 16
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

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

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

African
type: Population
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allele frequency: 0.0e0
allele num: 4
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East Asian
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allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.87e-2

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 9.121e3

QD
type: SiteQuality
SIO_000300: 1.665e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.226e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 6.114961271911944e-4
allele num: 9812
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele num: 9842
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Latino
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Other
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South Asian
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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allele frequency: 6.061830672863204e-4
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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QD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.692192192192192e-5
allele num: 63936
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.414423e6

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64074
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.972e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.429618e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 7.75e0

GenotypeQuality
all individuals: 45954
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e0

DP
type: SiteQuality
SIO_000300: 1.444864e6

FS
type: SiteQuality
SIO_000300: 1.773e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

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

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
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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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variant carriers: 77

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 77
allele frequency: 9.018505504802061e-3
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 1.493e0

DP
type: SiteQuality
SIO_000300: 1.4566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
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variant carriers: 79

GenotypeQuality
all individuals: 138
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variant carriers: 1

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
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variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 1

GenotypeQuality
all individuals: 1055
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
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variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.98603909054647e-4
allele num: 10028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.059975520195838e-4
allele num: 6536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.111214001296416e-3
allele num: 64794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.470528e6

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 5.75e1
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GenotypeQuality
all individuals: 230
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 1040
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variant carriers: 0

GenotypeQuality
all individuals: 1130
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6852
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 47677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.362e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

FS
type: SiteQuality
SIO_000300: 1.559e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.470239e6

QD
type: SiteQuality
SIO_000300: 2.028e1

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 157
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 447
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 207
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GenotypeQuality
all individuals: 1349
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GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.471057e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.575e0

QD
type: SiteQuality
SIO_000300: 5.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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variant carriers: 4

GenotypeQuality
all individuals: 446
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47823
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variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.978516013526955e-4
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.472559e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.06e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 947
bin: 2.25e1
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GenotypeQuality
all individuals: 47154
bin: 6.25e1
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GenotypeQuality
all individuals: 132
bin: 5.75e1
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GenotypeQuality
all individuals: 264
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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GenotypeQuality
all individuals: 998
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GenotypeQuality
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
all individuals: 1617
bin: 9.75e1
variant carriers: 1570

GenotypeQuality
all individuals: 1262
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GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.712328767123288e-2
allele num: 876
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Latino
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allele frequency: 4.889121704208137e-3
allele num: 11454
num of homozygotes: 0

African
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allele frequency: 2.982700338039372e-3
allele num: 10058
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European (Finnish)
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allele frequency: 2.364967958498627e-2
allele num: 6554
num of homozygotes: 1

European (Non-Finnish)
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allele count: 1176
allele frequency: 1.811962651382084e-2
allele num: 64902
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South Asian
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allele frequency: 9.739469198928659e-3
allele num: 16428
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FS
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SIO_000300: 1.364e0

BaseQRankSum
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DP
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MQ
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SIO_000300: 5.974e1

InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
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SIO_000300: -1.98e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64922
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16436
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East Asian
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allele frequency: 1.166316771635176e-4
allele num: 8574
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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DP
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.49e-1

MQ
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InbreedingCoeff
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SIO_000300: 3.0e-4

VQSLOD
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SIO_000300: -1.422e0

ReadPosRankSum
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SIO_000300: 1.98e-1

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64996
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African
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allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

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

DP
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SIO_000300: 1.478206e6

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.0e-4

FS
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SIO_000300: 1.037e0

ClippingRankSum
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SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
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SIO_000300: 9.44e-1

MQ
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SIO_000300: 5.959e1

QD
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SIO_000300: 1.287e1

BaseQRankSum
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SIO_000300: -1.304e0

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65092
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.103e0

InbreedingCoeff
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SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 9.58e0

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 2.78e-1

ReadPosRankSum
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SIO_000300: 1.6e0

VQSLOD
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SIO_000300: -9.508e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

DP
type: SiteQuality
SIO_000300: 1.481545e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8584
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African
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.068143466388488e-5
allele num: 65186
num of homozygotes: 0

Other
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65214
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East Asian
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Other
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South Asian
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African
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Latino
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele num: 10132
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Latino
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allele frequency: 8.709284096847239e-5
allele num: 11482
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Other
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South Asian
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East Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8586
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65214
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MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.333e0

FS
type: SiteQuality
SIO_000300: 3.682e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: -1.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
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ClippingRankSum
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SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 2.765e0

BaseQRankSum
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SIO_000300: -2.248e0

DP
type: SiteQuality
SIO_000300: 1.484489e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 2.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.483817e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
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variant carriers: 4

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-4
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.069273502961849e-5
allele num: 65162
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11454
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.993e1

QD
type: SiteQuality
SIO_000300: 1.051e1

FS
type: SiteQuality
SIO_000300: 2.651e0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.48391e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535626535626536e-5
allele num: 65120
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 1.746724890829694e-4
allele num: 11450
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
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Other
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allele count: 1
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num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.434867299732165e-4
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.075103670711104e-4
allele num: 65110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64974
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 880
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-3

DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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
all individuals: 333
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541069502234551e-5
allele num: 64890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.476636e6

QD
type: SiteQuality
SIO_000300: 1.136e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 2.989e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.25e1
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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6727
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230466346745417e-4
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.68e-2

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 1.465015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 7.609e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64118
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.45485e6

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeQuality
all individuals: 652
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.492769673765149e-5
allele num: 63206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.33e1

DP
type: SiteQuality
SIO_000300: 1.428322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 392
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44200
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.748187774999209e-5
allele num: 63182
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.781e0

DP
type: SiteQuality
SIO_000300: 1.427702e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.7282e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597546169084287e-5
allele num: 62596
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.427184466019417e-4
allele num: 8240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 3.932e0

DP
type: SiteQuality
SIO_000300: 1.40588e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 6004
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 38
bin: 1.25e1
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GenotypeQuality
all individuals: 511
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GenotypeQuality
all individuals: 841
bin: 7.75e1
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GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0