17-79803763-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803762
    reference: chr 17
allele count: 3
allele frequency: 2.536483081657845e-5
allele num: 118274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-241delA
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1160delA
  hgvsp: ENSP00000327801.4:p.Asn387ThrfsTer118
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.183delA
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.456delA
  hgvsp: ENSP00000388117.1:p.Asn153ThrfsTer118
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*975delA
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1028delA
  hgvsp: ENSP00000388374.2:p.Asn343ThrfsTer118
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.347delA
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2288delA
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20060
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Asn387ThrfsTer118
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: GT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

17-79803763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803763
    reference: chr 17
allele count: 2
allele frequency: 1.69098872110523e-5
allele num: 118274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1029C>T
  hgvsp: ENST00000439918.2:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2287C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.184C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.457C>T
  hgvsp: ENST00000415593.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1161C>T
  hgvsp: ENST00000331483.4:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-240C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.348C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*976C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn387Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-79803766-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803766
    reference: chr 17
allele count: 1
allele frequency: 8.441240524707511e-6
allele num: 118466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2290A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1026A>T
  hgvsp: ENSP00000388374.2:p.Lys342Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1158A>T
  hgvsp: ENSP00000327801.4:p.Lys386Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.454A>T
  hgvsp: ENSP00000388117.1:p.Lys152Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-243A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.345A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.181A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*973A>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys386Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-79803766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803766
    reference: chr 17
allele count: 45
allele frequency: 3.79855823611838e-4
allele num: 118466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.345A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1158A>G
  hgvsp: ENST00000331483.4:c.1158A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.181A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-243A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.454A>G
  hgvsp: ENST00000415593.1:c.454A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2290A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1026A>G
  hgvsp: ENST00000439918.2:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*973A>G
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32439
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys386Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-79803771-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803771
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803771
    reference: chr 17
allele count: 6
allele frequency: 5.080096183154401e-5
allele num: 118108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*968A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1021A>G
  hgvsp: ENSP00000388374.2:p.Lys341Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.449A>G
  hgvsp: ENSP00000388117.1:p.Lys151Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.340A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.176A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-248A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2295A>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1153A>G
  hgvsp: ENSP00000327801.4:p.Lys385Glu
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 2
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: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys385Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

17-79803775-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803775
    reference: chr 17
allele count: 1
allele frequency: 8.496032352891199e-6
allele num: 117702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.336T>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.445T>A
  hgvsp: ENSP00000388117.1:p.Asp149Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2299T>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*964T>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-252T>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1017T>A
  hgvsp: ENSP00000388374.2:p.Asp339Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1149T>A
  hgvsp: ENSP00000327801.4:p.Asp383Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.172T>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46636
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp383Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

17-79803786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803786
    reference: chr 17
allele count: 1
allele frequency: 8.587671538738987e-6
allele num: 116446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.161G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-263G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.325G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1138G>A
  hgvsp: ENSP00000327801.4:p.Val380Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1006G>A
  hgvsp: ENSP00000388374.2:p.Val336Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.434G>A
  hgvsp: ENSP00000388117.1:p.Val146Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*953G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2310G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val380Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-79803787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803787
    reference: chr 17
allele count: 2
allele frequency: 1.721792730591091e-5
allele num: 116158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1137C>T
  hgvsp: ENST00000331483.4:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.324C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.160C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*952C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1005C>T
  hgvsp: ENST00000439918.2:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.433C>T
  hgvsp: ENST00000415593.1:c.433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2311C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-264C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp379Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-79803789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803789
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803789
    reference: chr 17
allele count: 1
allele frequency: 8.642594161063386e-6
allele num: 115706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.158G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.431G>A
  hgvsp: ENSP00000388117.1:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1135G>A
  hgvsp: ENSP00000327801.4:p.Asp379Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.1003G>A
  hgvsp: ENSP00000388374.2:p.Asp335Asn
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2313G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*950G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-266G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.322G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 7.5e0
  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: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp379Asn
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-79803821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803821
    reference: chr 17
allele count: 2
allele frequency: 1.800763523734063e-5
allele num: 111064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.399C>T
  hgvsp: ENSP00000388117.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.290C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1103C>T
  hgvsp: ENSP00000327801.4:p.Pro368Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.971C>T
  hgvsp: ENSP00000388374.2:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*918C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-298C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.126C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2345C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.5e0
  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 depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro368Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-79803826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803826
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803826
    reference: chr 17
allele count: 1
allele frequency: 9.078199611453057e-6
allele num: 110154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.966G>A
  hgvsp: ENST00000439918.2:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2350G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*913G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1098G>A
  hgvsp: ENST00000331483.4:c.1098G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.285G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.394G>A
  hgvsp: ENST00000415593.1:c.394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-303G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.121G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys366Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79803829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803829
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803829
    reference: chr 17
allele count: 1
allele frequency: 9.129585334234119e-6
allele num: 109534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.391C>G
  hgvsp: ENSP00000388117.1:p.Asp131Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*910C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-306C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.963C>G
  hgvsp: ENSP00000388374.2:p.Asp321Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2353C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.118C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1095C>G
  hgvsp: ENSP00000327801.4:p.Asp365Glu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.282C>G
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp365Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-79803840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803840
    reference: chr 17
allele count: 1
allele frequency: 9.379631192901495e-6
allele num: 106614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.271G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1084G>A
  hgvsp: ENSP00000327801.4:p.Glu362Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*899G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.952G>A
  hgvsp: ENSP00000388374.2:p.Glu318Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.380G>A
  hgvsp: ENSP00000388117.1:p.Glu128Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.107G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-317G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2364G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  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 depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  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 depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu362Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79803841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803841
    reference: chr 17
allele count: 46
allele frequency: 4.322739489164959e-4
allele num: 106414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.270G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*898G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-318G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.379G>A
  hgvsp: ENST00000415593.1:c.379G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.106G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2365G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.951G>A
  hgvsp: ENST00000439918.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1083G>A
  hgvsp: ENST00000331483.4:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro361Pro
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-79803842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803842
    reference: chr 17
allele count: 3
allele frequency: 2.843440183496673e-5
allele num: 105506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1082C>T
  hgvsp: ENSP00000327801.4:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.105C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.378C>T
  hgvsp: ENSP00000388117.1:p.Pro127Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*897C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.269C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2366C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-319C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.950C>T
  hgvsp: ENSP00000388374.2:p.Pro317Leu
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
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: 424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro361Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-79803842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803842
    reference: chr 17
allele count: 2
allele frequency: 1.895626788997782e-5
allele num: 105506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*897C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-319C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.950C>G
  hgvsp: ENSP00000388374.2:p.Pro317Arg
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2366C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.378C>G
  hgvsp: ENSP00000388117.1:p.Pro127Arg
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.269C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.105C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1082C>G
  hgvsp: ENSP00000327801.4:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25166
  bin: 2.25e1
  variant carriers: 1
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: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro361Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-79803858-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803858
    reference: chr 17
allele count: 1
allele frequency: 9.760096820160457e-6
allele num: 102458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1066A>T
  hgvsp: ENSP00000327801.4:p.Met356Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.89A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.362A>T
  hgvsp: ENSP00000388117.1:p.Met122Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2382A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.253A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-335A>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.934A>T
  hgvsp: ENSP00000388374.2:p.Met312Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*881A>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met356Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-79803874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803874
    reference: chr 17
allele count: 1
allele frequency: 1.054496372532478e-5
allele num: 94832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-7C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-7C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-351C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-7C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-7C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2398C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-7C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-7C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1057-7C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-79803876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803876
    reference: chr 17
allele count: 1
allele frequency: 1.057551978679752e-5
allele num: 94558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-9G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-9G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-9G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-9G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-9G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2400G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-353G>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-9G>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.5e0
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-79803879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803879
    reference: chr 17
allele count: 3
allele frequency: 3.242121644404098e-5
allele num: 92532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-356C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-12C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-12C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-12C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-12C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-12C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2403C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-12C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-79803880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803880
    reference: chr 17
allele count: 2
allele frequency: 2.166753336800139e-5
allele num: 92304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-13G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-13G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-13G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2404G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-13G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-13G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-357G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-13G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18670
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 2.25e1
  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 depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-79803887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803887
    reference: chr 17
allele count: 1
allele frequency: 1.180804836576611e-5
allele num: 84688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2411G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-20G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-364G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  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: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-79803888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803888
    reference: chr 17
allele count: 13
allele frequency: 1.538243089738735e-4
allele num: 84512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-365C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-21C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-21C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2412C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-21C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-21C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-21C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-21C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25033
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-79803892-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803893
    reference: chr 17
allele count: 4
allele frequency: 4.911711977209656e-5
allele num: 81438
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2417dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-26dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-370dupC
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  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 depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79803897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803897
    reference: chr 17
allele count: 17
allele frequency: 2.220480668756531e-4
allele num: 76560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2421G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-374G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-30G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-30G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-30G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-30G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-30G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-30G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15607
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-79803898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803898
    reference: chr 17
allele count: 3
allele frequency: 4.139986752042393e-5
allele num: 72464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-31C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-375C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-31C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2422C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-31C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-31C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-31C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-31C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-79803899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803899
    reference: chr 17
allele count: 1
allele frequency: 1.379386448907526e-5
allele num: 72496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2423C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-32C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-376C>G
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25049
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-79803900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803900
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803900
    reference: chr 17
allele count: 1
allele frequency: 1.393844781445138e-5
allele num: 71744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2424G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-33G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-33G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-377G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-33G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-33G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-33G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-33G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 1
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: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

17-79803901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803901
    reference: chr 17
allele count: 3
allele frequency: 4.346440265422619e-5
allele num: 69022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-378C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2425C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-34C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24315
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-79803904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803904
    reference: chr 17
allele count: 1
allele frequency: 1.496423547720947e-5
allele num: 66826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-37C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2428C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-37C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-37C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-37C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-37C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-381C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-37C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79803905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803905
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 64578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-38G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-382G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-38G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-38G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2429G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-38G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-38G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-38G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19527
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-79803917-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79803917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79803915
    reference: chr 17
allele count: 1
allele frequency: 2.224100351407855e-5
allele num: 44962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.244-52_244-51delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2443_234-2442delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-396_244-395delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1057-52_1057-51delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.925-52_925-51delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.80-52_80-51delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*872-52_*872-51delCT
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.353-52_353-51delCT
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17108
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: CAG
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-79804260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804260
    reference: chr 17
allele count: 2
allele frequency: 1.713208840157615e-5
allele num: 116740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+45G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+45G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2784G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+45G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+45G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+45G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-737G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.787G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+45G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-79804261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804261
    reference: chr 17
allele count: 3
allele frequency: 2.56568144499179e-5
allele num: 116928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2785C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+44C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.786C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-738C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-79804267-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804266
    reference: chr 17
allele count: 1
allele frequency: 8.542919628212137e-6
allele num: 117056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-745delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.779delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+37delG
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2792delG
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: AC
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-79804268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804268
    reference: chr 17
allele count: 2
allele frequency: 1.7088466993626e-5
allele num: 117038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2792G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+37G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-745G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.779G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-79804269-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804269
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804269
    reference: chr 17
allele count: 1
allele frequency: 8.541460248044005e-6
allele num: 117076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-746G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+36G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+36G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+36G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.778G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2793G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+36G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+36G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+36G>C
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-79804270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804270
    reference: chr 17
allele count: 2
allele frequency: 1.708146148984507e-5
allele num: 117086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+35G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+35G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+35G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-747G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+35G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+35G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2794G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.777G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+35G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-79804271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804271
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804271
    reference: chr 17
allele count: 3
allele frequency: 2.560557177241768e-5
allele num: 117162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+34C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-748C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.776C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2795C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+34C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-79804287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804287
    reference: chr 17
allele count: 1
allele frequency: 8.504124500382685e-6
allele num: 117590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+18G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.760G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-764G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+18G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+18G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2811G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+18G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+18G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+18G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

17-79804288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804288
    reference: chr 17
allele count: 13
allele frequency: 1.105460977227504e-4
allele num: 117598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+17G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+17G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+17G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.759G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2812G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+17G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-765G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+17G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+17G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-79804288-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804289
    reference: chr 17
allele count: 14
allele frequency: 1.190496437014235e-4
allele num: 117598
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+16dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+16dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+16dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+16dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.758dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+16dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-766dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2813dupC
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+16dupC
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-79804289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804289
    reference: chr 17
allele count: 2
allele frequency: 1.698600353308873e-5
allele num: 117744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+16C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2813C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+16C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+16C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+16C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+16C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-766C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.758C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+16C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-79804294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804294
    reference: chr 17
allele count: 3
allele frequency: 2.540177135018882e-5
allele num: 118102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.753G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+11G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+11G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-771G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+11G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2818G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+11G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+11G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+11G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

17-79804295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804295
    reference: chr 17
allele count: 2
allele frequency: 1.691732503256585e-5
allele num: 118222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-772C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2819C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.752C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+10C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-79804296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804296
    reference: chr 17
allele count: 13
allele frequency: 1.099272788770506e-4
allele num: 118260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+9G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+9G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+9G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-773G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.751G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+9G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+9G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2820G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+9G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-79804297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804297
    reference: chr 17
allele count: 1
allele frequency: 8.442808415791428e-6
allele num: 118444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1056+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*871+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2821C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.79+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.352+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-774C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.924+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.243+8C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.750C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1056+8C>T
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-79804308-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804308
    reference: chr 17
allele count: 1
allele frequency: 8.40039649871474e-6
allele num: 119042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-785C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.349C>G
  hgvsp: ENSP00000388117.1:p.Ile117Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.921C>G
  hgvsp: ENSP00000388374.2:p.Ile307Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.600C>G
  hgvsp: ENSP00000460285.1:p.Ile200Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.240C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*868C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2832C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.739C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.76C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1053C>G
  hgvsp: ENSP00000327801.4:p.Ile351Met
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile351Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

17-79804315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804315
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804315
    reference: chr 17
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*861G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.233G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1046G>A
  hgvsp: ENSP00000327801.4:p.Gly349Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.914G>A
  hgvsp: ENSP00000388374.2:p.Gly305Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.342G>A
  hgvsp: ENSP00000388117.1:p.Gly115Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.69G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2839G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.593G>A
  hgvsp: ENSP00000460285.1:p.Gly198Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.732G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-792G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly349Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-79804319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804319
    reference: chr 17
allele count: 1
allele frequency: 8.380824673147837e-6
allele num: 119320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.338G>A
  hgvsp: ENSP00000388117.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-796G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.910G>A
  hgvsp: ENSP00000388374.2:p.Glu304Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.229G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.589G>A
  hgvsp: ENSP00000460285.1:p.Glu197Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*857G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1042G>A
  hgvsp: ENSP00000327801.4:p.Glu348Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.65G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2843G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.728G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu348Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

17-79804327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804327
    reference: chr 17
allele count: 5
allele frequency: 4.17717923440659e-5
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.581G>A
  hgvsp: ENSP00000460285.1:p.Arg194His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.221G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1034G>A
  hgvsp: ENSP00000327801.4:p.Arg345His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2851G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.902G>A
  hgvsp: ENSP00000388374.2:p.Arg301His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*849G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-804G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.720G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.57G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.330G>A
  hgvsp: ENSP00000388117.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1106G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg345His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

17-79804328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804328
    reference: chr 17
allele count: 4
allele frequency: 3.335612668656916e-5
allele num: 119918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.56C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*848C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.220C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.901C>T
  hgvsp: ENSP00000388374.2:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.329C>T
  hgvsp: ENSP00000388117.1:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1033C>T
  hgvsp: ENSP00000327801.4:p.Arg345Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.580C>T
  hgvsp: ENSP00000460285.1:p.Arg194Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.719C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1105C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2852C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-805C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg345Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-79804328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804328
    reference: chr 17
allele count: 37
allele frequency: 3.085441718507647e-4
allele num: 119918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.56C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.220C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.719C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2852C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1033C>G
  hgvsp: ENSP00000327801.4:p.Arg345Gly
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1105C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-805C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.329C>G
  hgvsp: ENSP00000388117.1:p.Arg111Gly
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.901C>G
  hgvsp: ENSP00000388374.2:p.Arg301Gly
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*848C>G
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.580C>G
  hgvsp: ENSP00000460285.1:p.Arg194Gly
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg345Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-79804348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804348
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804348
    reference: chr 17
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.699G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.36G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.309G>A
  hgvsp: ENSP00000388117.1:p.Arg104Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*828G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-825G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.560G>A
  hgvsp: ENSP00000460285.1:p.Arg187Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.881G>A
  hgvsp: ENSP00000388374.2:p.Arg294Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2872G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1085G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.200G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1013G>A
  hgvsp: ENSP00000327801.4:p.Arg338Lys
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg338Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-79804352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804352
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804352
    reference: chr 17
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1009G>A
  hgvsp: ENSP00000327801.4:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.877G>A
  hgvsp: ENSP00000388374.2:p.Glu293Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.556G>A
  hgvsp: ENSP00000460285.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.695G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-829G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.305G>A
  hgvsp: ENSP00000388117.1:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.32G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.196G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2876G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1081G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*824G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu337Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-79804355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804355
    reference: chr 17
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.692G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-832G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.874G>A
  hgvsp: ENSP00000388374.2:p.Ala292Thr
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1006G>A
  hgvsp: ENSP00000327801.4:p.Ala336Thr
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*821G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2879G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.193G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1078G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.302G>A
  hgvsp: ENSP00000388117.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.553G>A
  hgvsp: ENSP00000460285.1:p.Ala185Thr
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.29G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala336Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79804356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804356
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804356
    reference: chr 17
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2880G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.28G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-833G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.691G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1077G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.301G>A
  hgvsp: ENST00000415593.1:c.301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.873G>A
  hgvsp: ENST00000439918.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*820G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.552G>A
  hgvsp: ENST00000576380.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.192G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1005G>A
  hgvsp: ENST00000331483.4:c.1005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr335Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-79804357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804357
    reference: chr 17
allele count: 3
allele frequency: 2.487438435898711e-5
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.300C>T
  hgvsp: ENSP00000388117.1:p.Thr101Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*819C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2881C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.551C>T
  hgvsp: ENSP00000460285.1:p.Thr184Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.191C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.27C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-834C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.872C>T
  hgvsp: ENSP00000388374.2:p.Thr291Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.690C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.1004C>T
  hgvsp: ENSP00000327801.4:p.Thr335Met
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1076C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr335Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-79804362-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804362
    reference: chr 17
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-839G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1071G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.295G>C
  hgvsp: ENSP00000388117.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.186G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.999G>C
  hgvsp: ENSP00000327801.4:p.Glu333Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.22G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.685G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.546G>C
  hgvsp: ENSP00000460285.1:p.Glu182Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*814G>C
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.867G>C
  hgvsp: ENSP00000388374.2:p.Glu289Asp
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2886G>C
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu333Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-79804368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804368
    reference: chr 17
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.180G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.289G>A
  hgvsp: ENST00000415593.1:c.289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.993G>A
  hgvsp: ENST00000331483.4:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.861G>A
  hgvsp: ENST00000439918.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1065G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.540G>A
  hgvsp: ENST00000576380.1:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2892G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.16G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*808G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-845G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.679G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser331Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

17-79804369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804369
    reference: chr 17
allele count: 10
allele frequency: 8.283357078956959e-5
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2893C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1064C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-846C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.992C>T
  hgvsp: ENSP00000327801.4:p.Ser331Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.179C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*807C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.288C>T
  hgvsp: ENSP00000388117.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.860C>T
  hgvsp: ENSP00000388374.2:p.Ser287Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.539C>T
  hgvsp: ENSP00000460285.1:p.Ser180Leu
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.678C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.15C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser331Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-79804373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804373
    reference: chr 17
allele count: 3
allele frequency: 2.483978339708878e-5
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2897G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.175G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.674G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.988G>A
  hgvsp: ENSP00000327801.4:p.Glu330Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.284G>A
  hgvsp: ENSP00000388117.1:p.Glu96Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.535G>A
  hgvsp: ENSP00000460285.1:p.Glu179Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*803G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.856G>A
  hgvsp: ENSP00000388374.2:p.Glu286Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-850G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1060G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.11G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu330Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-79804374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804374
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804374
    reference: chr 17
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000474712
  gene symbol: P4HB
  hgvsc: ENST00000474712.1:n.10C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.174C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.855C>T
  hgvsp: ENST00000439918.2:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-851C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.283C>T
  hgvsp: ENST00000415593.1:c.283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.534C>T
  hgvsp: ENST00000576380.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.987C>T
  hgvsp: ENST00000331483.4:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2898C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1059C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*802C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.673C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro329Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-79804389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804389
    reference: chr 17
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.840G>A
  hgvsp: ENSP00000388374.2:p.Met280Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.268G>A
  hgvsp: ENSP00000388117.1:p.Met90Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.519G>A
  hgvsp: ENSP00000460285.1:p.Met173Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.972G>A
  hgvsp: ENSP00000327801.4:p.Met324Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*787G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1044G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-866G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.159G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2913G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.855G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.658G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met324Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-79804394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804394
    reference: chr 17
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*782G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.263G>A
  hgvsp: ENSP00000388117.1:p.Glu89Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1039G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.154G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.835G>A
  hgvsp: ENSP00000388374.2:p.Glu279Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.967G>A
  hgvsp: ENSP00000327801.4:p.Glu323Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.850G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2918G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.514G>A
  hgvsp: ENSP00000460285.1:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-871G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.653G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu323Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-79804405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804405
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804405
    reference: chr 17
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.143C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2929C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.839C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.956C>T
  hgvsp: ENSP00000327801.4:p.Thr319Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.252C>T
  hgvsp: ENSP00000388117.1:p.Thr85Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.642C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1028C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-882C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.824C>T
  hgvsp: ENSP00000388374.2:p.Thr275Ile
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*771C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.503C>T
  hgvsp: ENSP00000460285.1:p.Thr168Ile
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr319Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-79804410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804410
    reference: chr 17
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.138C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.951C>T
  hgvsp: ENST00000331483.4:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1023C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-887C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2934C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.834C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.637C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*766C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.498C>T
  hgvsp: ENST00000576380.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.247C>T
  hgvsp: ENST00000415593.1:c.247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.819C>T
  hgvsp: ENST00000439918.2:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu317Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79804414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804414
    reference: chr 17
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2938G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.243G>A
  hgvsp: ENSP00000388117.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-891G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.830G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*762G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.633G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.947G>A
  hgvsp: ENSP00000327801.4:p.Arg316His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.815G>A
  hgvsp: ENSP00000388374.2:p.Arg272His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.494G>A
  hgvsp: ENSP00000460285.1:p.Arg165His
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.134G>A
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1019G>A
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg316His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79804415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804415
    reference: chr 17
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.133C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*761C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.946C>T
  hgvsp: ENSP00000327801.4:p.Arg316Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2939C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.493C>T
  hgvsp: ENSP00000460285.1:p.Arg165Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.242C>T
  hgvsp: ENSP00000388117.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.814C>T
  hgvsp: ENSP00000388374.2:p.Arg272Cys
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.632C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.829C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-892C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1018C>T
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg316Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-79804419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79804419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79804419
    reference: chr 17
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388117
  ensembl transcript: ENST00000415593
  gene symbol: P4HB
  hgvsc: ENST00000415593.1:c.238C>T
  hgvsp: ENST00000415593.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000478034
  gene symbol: P4HB
  hgvsc: ENST00000478034.1:n.628C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000327801
  ensembl transcript: ENST00000331483
  gene symbol: P4HB
  hgvsc: ENST00000331483.4:c.942C>T
  hgvsp: ENST00000331483.4:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000477607
  gene symbol: P4HB
  hgvsc: ENST00000477607.2:n.1014C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000472244
  gene symbol: P4HB
  hgvsc: ENST00000472244.1:n.825C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000458300
  ensembl transcript: ENST00000571617
  gene symbol: P4HB
  hgvsc: ENST00000571617.1:c.244-896C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000460285
  ensembl transcript: ENST00000576380
  gene symbol: P4HB
  hgvsc: ENST00000576380.1:c.489C>T
  hgvsp: ENST00000576380.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000388374
  ensembl transcript: ENST00000439918
  gene symbol: P4HB
  hgvsc: ENST00000439918.2:c.810C>T
  hgvsp: ENST00000439918.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000459211
  ensembl transcript: ENST00000575069
  gene symbol: P4HB
  hgvsc: ENST00000575069.1:c.*757C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461718
  ensembl transcript: ENST00000576390
  gene symbol: P4HB
  hgvsc: ENST00000576390.1:c.234-2943C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185624
  ensembl transcript: ENST00000476482
  gene symbol: P4HB
  hgvsc: ENST00000476482.1:n.129C>T
  variant of: http://identifiers.org/hgnc/8548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185624
  ensembl protein: ENSP00000461362
  ensembl transcript: ENST00000570907
  gene symbol: P4HB
  hgvsc: ENST00000570907.1:c.351C>T
  hgvsp: ENST00000570907.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala314Ala
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.619791185438418e-5
allele num: 64938
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 3.46e0

DP
type: SiteQuality
SIO_000300: 1.464186e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 214
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539930395146139e-5
allele num: 64938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.182762458266353e-5
allele num: 16174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 1.338e0

DP
type: SiteQuality
SIO_000300: 1.464186e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 48184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 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: 8.843296781039972e-5
allele num: 11308
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 1.443706e6

FS
type: SiteQuality
SIO_000300: 1.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 45

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

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2165
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.838608567389834e-4
allele num: 65084
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.305978068623983e-4
allele num: 11308
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.148e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.443706e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5493
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
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: 16146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.161049842893228e-5
allele num: 64924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.435002e6

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545021939311538e-5
allele num: 64724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.166e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 1.643e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.425202e6

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.270378730875344e-5
allele num: 15948
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.141e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.396592e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 963
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.04384133611691e-4
allele num: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564945226917058e-5
allele num: 63900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390172e6

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 3.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 998
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
allele num: 10992
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.570203812454857e-5
allele num: 63686
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.376e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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MQ
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SIO_000300: 5.954e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.379457e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15412
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.26317506934247e-5
allele num: 61290
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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SIO_000300: 5.915e1

ReadPosRankSum
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SIO_000300: 5.74e-1

BaseQRankSum
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SIO_000300: -1.717e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8998
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5614
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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SIO_000300: 1.091e1

DP
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SIO_000300: 1.288339e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15254
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.653439153439154e-5
allele num: 60480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.278283e6

FS
type: SiteQuality
SIO_000300: 5.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-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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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.240387000744232e-4
allele num: 8062
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
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MQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 1.22995e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 4.265e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.455637349864394e-3
allele num: 5162
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.302083333333333e-3
allele num: 768
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East Asian
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allele count: 1
allele frequency: 1.241310824230387e-4
allele num: 8056
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South Asian
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allele count: 3
allele frequency: 2.00133422281521e-4
allele num: 14990
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.890468255857449e-4
allele num: 58814
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.25e1

MQRankSum
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MQ
type: SiteQuality
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FS
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
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allele frequency: 1.25093820365274e-4
allele num: 7994
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.427592116538132e-5
allele num: 58350
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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African
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allele frequency: 2.34192037470726e-4
allele num: 8540
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58350
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FS
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 56784
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African
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Other
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South Asian
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East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.897965381111449e-5
allele num: 52688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.02722e6

QD
type: SiteQuality
SIO_000300: 1.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 8.25e1
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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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.3598041881969e-4
allele num: 7354
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 1.025811e6

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.483679525222552e-3
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.887269193391642e-5
allele num: 51450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 9.83108e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.894e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

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: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.466275659824047e-3
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.94908977507504e-5
allele num: 51306
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 3.681e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.681e1

DP
type: SiteQuality
SIO_000300: 9.8235e5

GenotypeQuality
all individuals: 1519
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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: 247
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.058017727639001e-5
allele num: 12410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.28349e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 913
bin: 1.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.958579881656805e-4
allele num: 6760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.825006825006825e-4
allele num: 7326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.064599923348805e-4
allele num: 46966
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.694915254237288e-3
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 8.25904e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 2.666e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6782
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South Asian
type: Population
allele count: 3
allele frequency: 2.486325211337643e-4
allele num: 12066
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.204099625303064e-5
allele num: 45370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.731e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.049e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 7.79539e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-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
all individuals: 133
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GenotypeQuality
all individuals: 72
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.342908017431236e-5
allele num: 42682
num of homozygotes: 0

East Asian
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allele num: 6306
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African
type: Population
allele count: 1
allele frequency: 1.551349674216568e-4
allele num: 6446
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South Asian
type: Population
allele count: 15
allele frequency: 1.313485113835377e-3
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 7.31357e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-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: 0

African
type: Population
allele count: 1
allele frequency: 1.623376623376623e-4
allele num: 6160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.479543763947434e-5
allele num: 40330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.718803712616019e-4
allele num: 5818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 4.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

DP
type: SiteQuality
SIO_000300: 6.98782e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ReadPosRankSum
type: SiteQuality
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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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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 6042
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European (Non-Finnish)
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allele frequency: 2.48015873015873e-5
allele num: 40320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
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FS
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.65e-1

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.504257237303416e-5
allele num: 39932
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Other
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allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

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

East Asian
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MQ
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-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: 3

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 488
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.836210062431142e-4
allele num: 5446
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African
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allele frequency: 1.676164934629568e-4
allele num: 5966
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.601050824533111e-5
allele num: 38446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.99e-2

MQ
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DP
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SIO_000300: 6.74414e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.424e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35858
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: 2142
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
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South Asian
type: Population
allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele num: 4532
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Latino
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allele frequency: 0.0e0
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Latino
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allele num: 11518
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African
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South Asian
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BaseQRankSum
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VQSLOD
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QD
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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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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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
type: Population
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.492e1

GenotypeQuality
all individuals: 1077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.148713750432948e-5
allele num: 63518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.669771e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573861311341245e-5
allele num: 63538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.146e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.670872e6

GenotypeQuality
all individuals: 9577
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 1843
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57331655129012e-5
allele num: 63560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.563e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

FS
type: SiteQuality
SIO_000300: 1.1721e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.672462e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 567
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37637
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 810
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572129291912967e-5
allele num: 63608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
type: SiteQuality
SIO_000300: 1.673909e6

FS
type: SiteQuality
SIO_000300: 1.7788e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.441e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
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variant carriers: 0

GenotypeQuality
all individuals: 38085
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 9700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
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: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 6.334e0

DP
type: SiteQuality
SIO_000300: 1.684033e6

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
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: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.251172974663747e-4
allele num: 63940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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: 884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.998e1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.685951e6

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.214645150095436e-3
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 1.685951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

GenotypeQuality
all individuals: 38220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 1476
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 574
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GenotypeQuality
all individuals: 2787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122755519470381e-5
allele num: 64046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 9606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.687645e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 77
bin: 3.75e1
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 38426
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 2724
bin: 7.75e1
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 1818
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1479
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.111484489249821e-5
allele num: 64278
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: 5.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.197e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.689905e6

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38522
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 8.973000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

DP
type: SiteQuality
SIO_000300: 1.690932e6

QD
type: SiteQuality
SIO_000300: 1.356e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.452562704471102e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Finnish)
type: Population
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: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.211951795254069e-5
allele num: 64392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 2.301e0

DP
type: SiteQuality
SIO_000300: 1.691825e6

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 667
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1814
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variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Finnish)
type: Population
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: 8602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.846e1

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

FS
type: SiteQuality
SIO_000300: 1.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

DP
type: SiteQuality
SIO_000300: 1.693513e6

QD
type: SiteQuality
SIO_000300: 1.523e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1501
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540072691431036e-5
allele num: 64932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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: 8608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

DP
type: SiteQuality
SIO_000300: 1.700035e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 585
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
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
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537231753059091e-5
allele num: 65052
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 1.701946e6

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

FS
type: SiteQuality
SIO_000300: 3.946e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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
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GenotypeQuality
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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: 1500
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 1.703308e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65428
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.9708853238265e-4
allele num: 10098
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

DP
type: SiteQuality
SIO_000300: 1.707398e6

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-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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bin: 7.5e0
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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
all individuals: 1828
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 39431
bin: 6.25e1
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: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.049338293590291e-5
allele num: 65588
num of homozygotes: 0

MQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: 9.6e-1

InbreedingCoeff
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SIO_000300: 2.1e-3

ClippingRankSum
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SIO_000300: -1.64e-1

DP
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SIO_000300: 1.712554e6

VQSLOD
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 1.968891514077574e-4
allele num: 10158
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 34
allele frequency: 5.183875099103494e-4
allele num: 65588
num of homozygotes: 0

Other
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allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.712554e6

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: 1

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

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

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

South Asian
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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SIO_000300: 5.952e1

DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 5.25e1
variant carriers: 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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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

South Asian
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allele num: 16508
num of homozygotes: 0

Other
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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: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -4.608e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.0e-4

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.73e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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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

Other
type: Population
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66036
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FS
type: SiteQuality
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QD
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MQ
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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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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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66036
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East Asian
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African
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 3

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

European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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allele num: 66100
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African
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East Asian
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Other
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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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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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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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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MQ
type: SiteQuality
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.022152376922845e-5
allele num: 66178
num of homozygotes: 0

African
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Latino
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Other
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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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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European (Non-Finnish)
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allele frequency: 3.0218783996132e-5
allele num: 66184
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European (Finnish)
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East Asian
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allele frequency: 6.947660954145438e-4
allele num: 8636
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African
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Other
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allele frequency: 0.0e0
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Latino
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South Asian
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DP
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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ClippingRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Other
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South Asian
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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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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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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African
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South Asian
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Other
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
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: 11564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 1.6122e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.303e0

DP
type: SiteQuality
SIO_000300: 1.718583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.718656e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
type: SiteQuality
SIO_000300: -7.756999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 1.0306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.128e0

GenotypeQuality
all individuals: 10051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2810
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 1.718427e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1