6-3119538-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119538
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119538
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 18366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+457T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-153T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+457T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-153T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+457T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-153T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.127T>A
  hgvsp: ENSP00000394072.2:p.Tyr43Asn
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.127T>A
  hgvsp: ENSP00000396637.2:p.Tyr43Asn
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+457T>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31168
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr43Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

6-3119539-ACCGCTAAGGCTTTAATCACGGGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119539
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119515
    reference: chr 6
allele count: 1
allele frequency: 5.393743257820928e-5
allele num: 18540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: coding sequence
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29683
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: ACCGCTAAGGCTTTAATCACGGGTC
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-3119540-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119540
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119540
    reference: chr 6
allele count: 29
allele frequency: 1.58141563965536e-3
allele num: 18338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.129C>A
  hgvsp: ENSP00000394072.2:p.Tyr43Ter
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+459C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-151C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+459C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+459C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+459C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-151C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.129C>A
  hgvsp: ENSP00000396637.2:p.Tyr43Ter
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-151C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29551
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr43Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-3119543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119543
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119543
    reference: chr 6
allele count: 1
allele frequency: 5.228484785109276e-5
allele num: 19126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-148C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.132C>T
  hgvsp: ENST00000430655.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+462C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+462C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-148C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+462C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.132C>T
  hgvsp: ENST00000424847.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+462C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31930
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg44Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-3119559-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119559
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119559
    reference: chr 6
allele count: 227
allele frequency: 1.093765057338344e-2
allele num: 20754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+478G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-132G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*13G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-132G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-132G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+478G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*13G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+478G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+478G>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32365
  bin: 2.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 7.5e0
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 19
num of homozygotes: 9
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-3119563-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119563
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119563
    reference: chr 6
allele count: 1
allele frequency: 4.720989519403267e-5
allele num: 21182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*17C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-128C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+482C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-128C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+482C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+482C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-128C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*17C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+482C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-3119573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119573
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119573
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 22902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+492C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-118C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*27C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-118C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*27C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+492C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-118C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+492C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+492C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-3119589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119589
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119589
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 25918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+508C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-102C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+508C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+508C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*43C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-102C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+508C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*43C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-3119643-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119643
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119643
    reference: chr 6
allele count: 4
allele frequency: 3.52410487736115e-5
allele num: 113504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-48C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+562C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*97C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+562C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+562C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*97C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-48C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+562C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

6-3119649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119649
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119649
    reference: chr 6
allele count: 1
allele frequency: 8.765471056414571e-6
allele num: 114084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+568C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*103C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+568C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-42C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-42C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+568C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+568C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*103C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

6-3119660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119660
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119660
    reference: chr 6
allele count: 2
allele frequency: 1.727622963564432e-5
allele num: 115766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*114C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*114C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+579C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-31C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+579C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-31C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+579C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+579C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26022
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-3119661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119661
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119661
    reference: chr 6
allele count: 1
allele frequency: 8.623365872167224e-6
allele num: 115964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+580T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-30T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+580T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+580T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+580T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*115T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-30T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*115T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-3119664-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119664
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119664
    reference: chr 6
allele count: 1
allele frequency: 8.5794196880523e-6
allele num: 116558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+583C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-27C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-27C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+583C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-27C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*118C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*118C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+583C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+583C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27565
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

6-3119665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119665
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119665
    reference: chr 6
allele count: 1
allele frequency: 8.548469823901522e-6
allele num: 116980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-26A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+584A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+584A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*119A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-26A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+584A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*119A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+584A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

6-3119669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119669
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119669
    reference: chr 6
allele count: 21
allele frequency: 1.782289138220766e-4
allele num: 117826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+588G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-22G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*123G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+588G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+588G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+588G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*123G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28861
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

6-3119670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119670
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119670
    reference: chr 6
allele count: 1
allele frequency: 8.461955050094773e-6
allele num: 118176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*124A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+589A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*124A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-21A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+589A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+589A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+589A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

6-3119674-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119674
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119674
    reference: chr 6
allele count: 1
allele frequency: 8.405056481979558e-6
allele num: 118976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*128G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-17G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+593G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-17G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-17G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+593G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+593G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+593G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*128G>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

6-3119690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119690
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119690
    reference: chr 6
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-1G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*144G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+609G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+609G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*144G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+609G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-1G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-1G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+609G>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31488
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-3119690-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119690
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119690
    reference: chr 6
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+609G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*144G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+609G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*144G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.-1G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+609G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.-1G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.-1G>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+609G>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14022
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8071
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

6-3119691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119691
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119691
    reference: chr 6
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+610A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.1A>G
  hgvsp: ENSP00000369726.2:p.Met1?
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*145A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+610A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*145A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.1A>G
  hgvsp: ENSP00000390472.1:p.Met1?
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+610A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.1A>G
  hgvsp: ENSP00000369734.3:p.Met1?
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+610A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

6-3119694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119694
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119694
    reference: chr 6
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+613C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.4C>T
  hgvsp: ENSP00000390472.1:p.Pro2Ser
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.4C>T
  hgvsp: ENSP00000369726.2:p.Pro2Ser
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+613C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.4C>T
  hgvsp: ENSP00000369734.3:p.Pro2Ser
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*148C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+613C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*148C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+613C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro2Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

6-3119701-ATCTGCTTTATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119689
    reference: chr 6
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsp: ENSP00000369726.2:p.Tyr7_Leu10del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsp: ENSP00000390472.1:p.Tyr7_Leu10del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsp: ENSP00000369734.3:p.Tyr7_Leu10del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31539
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr7_Leu10del
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: ATCTGCTTTATTC
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-3119704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119704
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119704
    reference: chr 6
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+623T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+623T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*158T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.14T>C
  hgvsp: ENSP00000369734.3:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+623T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*158T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.14T>C
  hgvsp: ENSP00000369726.2:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.14T>C
  hgvsp: ENSP00000390472.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+623T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu5Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

6-3119705-GCTTTATTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119705
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119696
    reference: chr 6
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.20_28delATTCTCTTT
  hgvsp: ENSP00000369726.2:p.Tyr7_Leu9del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.20_28delATTCTCTTT
  hgvsp: ENSP00000390472.1:p.Tyr7_Leu9del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.20_28delATTCTCTTT
  hgvsp: ENSP00000369734.3:p.Tyr7_Leu9del
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr7_Leu9del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: GCTTTATTCT
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

6-3119709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119709
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119709
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*163T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.19T>C
  hgvsp: ENSP00000369726.2:p.Tyr7His
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.19T>C
  hgvsp: ENSP00000390472.1:p.Tyr7His
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.19T>C
  hgvsp: ENSP00000369734.3:p.Tyr7His
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*163T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+628T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+628T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+628T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+628T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr7His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

6-3119719-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119719
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119719
    reference: chr 6
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.29T>A
  hgvsp: ENSP00000369726.2:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.29T>A
  hgvsp: ENSP00000390472.1:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+638T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*173T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.29T>A
  hgvsp: ENSP00000369734.3:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*173T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+638T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+638T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+638T>A
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu10Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-3119723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119723
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119723
    reference: chr 6
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*177C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+642C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.33C>T
  hgvsp: ENST00000380375.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+642C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+642C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.33C>T
  hgvsp: ENST00000434640.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.33C>T
  hgvsp: ENST00000380368.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+642C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*177C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser11Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

6-3119724-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119724
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119723
    reference: chr 6
allele count: 31
allele frequency: 2.554215279151012e-4
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.37delC
  hgvsp: ENSP00000390472.1:p.His13ThrfsTer10
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*181delC
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*181delC
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.37delC
  hgvsp: ENSP00000369734.3:p.His13ThrfsTer10
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.37delC
  hgvsp: ENSP00000369726.2:p.His13ThrfsTer10
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+646delC
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+646delC
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+646delC
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+646delC
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His13ThrfsTer10
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TC
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

6-3119731-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119731
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119731
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*185T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.41T>G
  hgvsp: ENSP00000369726.2:p.Leu14Arg
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*185T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.41T>G
  hgvsp: ENSP00000390472.1:p.Leu14Arg
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.41T>G
  hgvsp: ENSP00000369734.3:p.Leu14Arg
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+650T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+650T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+650T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+650T>G
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu14Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

6-3119732-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119732
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119731
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*187delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+652delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*187delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.43delT
  hgvsp: ENSP00000369726.2:p.Ser15ProfsTer8
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+652delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+652delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+652delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.43delT
  hgvsp: ENSP00000390472.1:p.Ser15ProfsTer8
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.43delT
  hgvsp: ENSP00000369734.3:p.Ser15ProfsTer8
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser15ProfsTer8
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: GT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-3119733-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119733
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119733
    reference: chr 6
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+652T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+652T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+652T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*187T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*187T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+652T>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.43T>A
  hgvsp: ENSP00000390472.1:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.43T>A
  hgvsp: ENSP00000369726.2:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.43T>A
  hgvsp: ENSP00000369734.3:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7208
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser15Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/6-3119736-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119736
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119736
    reference: chr 6
allele count: 9
allele frequency: 7.416441426593711e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+655C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.46C>A
  hgvsp: ENSP00000369726.2:p.Pro16Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+655C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+655C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.46C>A
  hgvsp: ENSP00000390472.1:p.Pro16Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*190C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*190C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+655C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.46C>A
  hgvsp: ENSP00000369734.3:p.Pro16Thr
  variant of: http://identifiers.org/hgnc/1094
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Pro16Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-3119759-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119759
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119760
    reference: chr 6
allele count: 36
allele frequency: 2.96868042155262e-4
allele num: 121266
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+685dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+685dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+20dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+20dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+685dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+20dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+685dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+20dupA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+20dupA
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-3119759-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119759
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119758
    reference: chr 6
allele count: 36
allele frequency: 2.96868042155262e-4
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+20delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+685delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+685delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+20delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+20delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+20delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+20delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+685delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+685delA
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 36
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: CA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-3119760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119760
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119760
    reference: chr 6
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+679A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+679A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+14A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+14A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+679A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+14A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+14A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+14A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+679A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-3119766-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119766
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119766
    reference: chr 6
allele count: 36
allele frequency: 2.969121140142518e-4
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+20A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+20A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+685A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+20A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+685A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+20A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+685A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+685A>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+20A>C
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

6-3119783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119783
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119783
    reference: chr 6
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+37C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+702C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+37C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+702C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+702C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+37C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+37C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+702C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+37C>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

6-3119783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119783
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119783
    reference: chr 6
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+702C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+702C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+702C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+702C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

6-3119792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119792
    reference: chr 6
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+46T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+46T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+46T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+711T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+46T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+711T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+711T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+46T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+711T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

6-3119792-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119792
    reference: chr 6
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+46T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+711T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+46T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+46T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+711T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+46T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+711T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+46T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+711T>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

6-3119796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3119796
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3119796
    reference: chr 6
allele count: 3
allele frequency: 2.478724283235561e-5
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*200+50A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.122+715A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.56+50A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*200+50A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.107+715A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.120+715A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.107+715A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.56+50A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.56+50A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-3123847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123847
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123847
    reference: chr 6
allele count: 3
allele frequency: 2.49260527102928e-5
allele num: 120356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-44C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-44C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

6-3123848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123848
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123848
    reference: chr 6
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-43A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-43A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-3123853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123853
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123853
    reference: chr 6
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-38C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-38C>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-3123854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123854
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123854
    reference: chr 6
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-37C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-37C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

6-3123855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123855
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123855
    reference: chr 6
allele count: 5
allele frequency: 4.147174944427856e-5
allele num: 120564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-36C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-36C>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

6-3123858-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123858
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123858
    reference: chr 6
allele count: 244
allele frequency: 2.02221117188795e-3
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-33T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-33T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 17540
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS

6-3123862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123862
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123862
    reference: chr 6
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-29C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-29C>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-3123863-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123863
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123862
    reference: chr 6
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-27delT
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-27delT
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: CT
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-3123865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123865
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123865
    reference: chr 6
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-26G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-26G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

6-3123868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123868
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123868
    reference: chr 6
allele count: 11
allele frequency: 9.092862929224461e-5
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-23G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-23G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-3123873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123873
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123873
    reference: chr 6
allele count: 7
allele frequency: 5.780824180361715e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-18G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-18G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-3123885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123885
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123885
    reference: chr 6
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.108-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.57-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.108-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*201-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.123-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.57-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.121-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.57-6T>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*201-6T>C
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.108-6T>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

6-3123896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123896
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123896
    reference: chr 6
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.128C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.62C>T
  hgvsp: ENSP00000369726.2:p.Ser21Leu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.113C>T
  hgvsp: ENSP00000369739.5:p.Ser38Leu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*206C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.62C>T
  hgvsp: ENSP00000390472.1:p.Ser21Leu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.62C>T
  hgvsp: ENSP00000369734.3:p.Ser21Leu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.126C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*206C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.113C>T
  hgvsp: ENSP00000413762.1:p.Ser38Leu
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser38Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

6-3123897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123897
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123897
    reference: chr 6
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.63G>A
  hgvsp: ENST00000380375.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*207G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.63G>A
  hgvsp: ENST00000380368.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.63G>A
  hgvsp: ENST00000434640.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*207G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.129G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.127G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.114G>A
  hgvsp: ENST00000380379.5:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.114G>A
  hgvsp: ENST00000433912.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser38Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-3123897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123897
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123897
    reference: chr 6
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.114G>C
  hgvsp: ENST00000380379.5:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.63G>C
  hgvsp: ENST00000434640.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.127G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*207G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.63G>C
  hgvsp: ENST00000380375.3:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*207G>C
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.63G>C
  hgvsp: ENST00000380368.2:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.114G>C
  hgvsp: ENST00000433912.1:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.129G>C
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser38Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-3123898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123898
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123898
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.130G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.64G>A
  hgvsp: ENSP00000369726.2:p.Val22Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.64G>A
  hgvsp: ENSP00000369734.3:p.Val22Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.115G>A
  hgvsp: ENSP00000413762.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.64G>A
  hgvsp: ENSP00000390472.1:p.Val22Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*208G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.128G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.115G>A
  hgvsp: ENSP00000369739.5:p.Val39Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*208G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val39Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/6-3123903-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123903
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123903
    reference: chr 6
allele count: 5
allele frequency: 4.119905736556747e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.69C>A
  hgvsp: ENST00000380375.3:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.120C>A
  hgvsp: ENST00000433912.1:c.120C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*213C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.133C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.135C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.69C>A
  hgvsp: ENST00000380368.2:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.120C>A
  hgvsp: ENST00000380379.5:c.120C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.69C>A
  hgvsp: ENST00000434640.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*213C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr40Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-3123903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123903
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123903
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*213C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.69C>T
  hgvsp: ENST00000380375.3:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.135C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.120C>T
  hgvsp: ENST00000380379.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.69C>T
  hgvsp: ENST00000380368.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.69C>T
  hgvsp: ENST00000434640.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.133C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.120C>T
  hgvsp: ENST00000433912.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*213C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr40Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

6-3123920-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123920
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123920
    reference: chr 6
allele count: 77
allele frequency: 6.382837627242283e-4
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*230T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.137T>G
  hgvsp: ENSP00000369739.5:p.Val46Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.150T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.86T>G
  hgvsp: ENSP00000390472.1:p.Val29Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.152T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.137T>G
  hgvsp: ENSP00000413762.1:p.Val46Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*230T>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.86T>G
  hgvsp: ENSP00000369734.3:p.Val29Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.86T>G
  hgvsp: ENSP00000369726.2:p.Val29Gly
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34299
  bin: 6.25e1
  variant carriers: 5
hgvs: p.Val46Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

6-3123927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123927
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123927
    reference: chr 6
allele count: 33
allele frequency: 2.718465796757612e-4
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.93C>T
  hgvsp: ENST00000434640.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.157C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*237C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.159C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.144C>T
  hgvsp: ENST00000433912.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.144C>T
  hgvsp: ENST00000380379.5:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.93C>T
  hgvsp: ENST00000380368.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.93C>T
  hgvsp: ENST00000380375.3:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*237C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly48Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-3123928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123928
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123928
    reference: chr 6
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.94G>A
  hgvsp: ENSP00000369734.3:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.145G>A
  hgvsp: ENSP00000369739.5:p.Val49Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*238G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.94G>A
  hgvsp: ENSP00000369726.2:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.94G>A
  hgvsp: ENSP00000390472.1:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.145G>A
  hgvsp: ENSP00000413762.1:p.Val49Ile
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.160G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.158G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*238G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8721
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val49Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-3123946-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123946
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123946
    reference: chr 6
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.178C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.176C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.112C>A
  hgvsp: ENSP00000369734.3:p.Gln38Lys
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.163C>A
  hgvsp: ENSP00000369739.5:p.Gln55Lys
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.112C>A
  hgvsp: ENSP00000369726.2:p.Gln38Lys
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.163C>A
  hgvsp: ENSP00000413762.1:p.Gln55Lys
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.112C>A
  hgvsp: ENSP00000390472.1:p.Gln38Lys
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*256C>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*256C>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln55Lys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/6-3123946-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123946
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123945
    reference: chr 6
allele count: 27
allele frequency: 2.224089358968023e-4
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*257delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.164delA
  hgvsp: ENSP00000413762.1:p.Gln55ArgfsTer16
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.113delA
  hgvsp: ENSP00000369734.3:p.Gln38ArgfsTer16
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.164delA
  hgvsp: ENSP00000369739.5:p.Gln55ArgfsTer16
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.179delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*257delA
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.113delA
  hgvsp: ENSP00000369726.2:p.Gln38ArgfsTer16
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.113delA
  hgvsp: ENSP00000390472.1:p.Gln38ArgfsTer16
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.177delA
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln55ArgfsTer16
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CA
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

6-3123953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123953
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123953
    reference: chr 6
allele count: 9
allele frequency: 7.413875479842496e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.185G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.119G>A
  hgvsp: ENSP00000369734.3:p.Gly40Glu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*263G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.170G>A
  hgvsp: ENSP00000369739.5:p.Gly57Glu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.119G>A
  hgvsp: ENSP00000390472.1:p.Gly40Glu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.170G>A
  hgvsp: ENSP00000413762.1:p.Gly57Glu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*263G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.119G>A
  hgvsp: ENSP00000369726.2:p.Gly40Glu
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.183G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly57Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-3123956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123956
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123956
    reference: chr 6
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.173A>G
  hgvsp: ENSP00000413762.1:p.Glu58Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.173A>G
  hgvsp: ENSP00000369739.5:p.Glu58Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.122A>G
  hgvsp: ENSP00000369726.2:p.Glu41Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*266A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.186A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.188A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*266A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.122A>G
  hgvsp: ENSP00000369734.3:p.Glu41Gly
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.122A>G
  hgvsp: ENSP00000390472.1:p.Glu41Gly
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu58Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-3123960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123960
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123960
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*270A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.177A>G
  hgvsp: ENST00000433912.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.126A>G
  hgvsp: ENST00000380368.2:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.126A>G
  hgvsp: ENST00000380375.3:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.126A>G
  hgvsp: ENST00000434640.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.177A>G
  hgvsp: ENST00000380379.5:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*270A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.192A>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.190A>G
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly59Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

6-3123966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123966
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123966
    reference: chr 6
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.132C>T
  hgvsp: ENST00000380368.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.196C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.198C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.132C>T
  hgvsp: ENST00000380375.3:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.183C>T
  hgvsp: ENST00000433912.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.132C>T
  hgvsp: ENST00000434640.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.183C>T
  hgvsp: ENST00000380379.5:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*276C>T
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*276C>T
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His61His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

6-3123967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123967
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123967
    reference: chr 6
allele count: 33
allele frequency: 2.71904816835028e-4
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.133G>A
  hgvsp: ENSP00000390472.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.184G>A
  hgvsp: ENSP00000369739.5:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.133G>A
  hgvsp: ENSP00000369726.2:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.199G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*277G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.184G>A
  hgvsp: ENSP00000413762.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*277G>A
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.133G>A
  hgvsp: ENSP00000369734.3:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.197G>A
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala62Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

6-3123973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3123973
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 3123973
    reference: chr 6
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369734
  ensembl transcript: ENST00000380375
  gene symbol: BPHL
  hgvsc: ENST00000380375.3:c.139C>G
  hgvsp: ENSP00000369734.3:p.Leu47Val
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369739
  ensembl transcript: ENST00000380379
  gene symbol: BPHL
  hgvsc: ENST00000380379.5:c.190C>G
  hgvsp: ENSP00000369739.5:p.Leu64Val
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000396637
  ensembl transcript: ENST00000430655
  gene symbol: BPHL
  hgvsc: ENST00000430655.2:c.*283C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000390472
  ensembl transcript: ENST00000434640
  gene symbol: BPHL
  hgvsc: ENST00000434640.1:c.139C>G
  hgvsp: ENSP00000390472.1:p.Leu47Val
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000369726
  ensembl transcript: ENST00000380368
  gene symbol: BPHL
  hgvsc: ENST00000380368.2:c.139C>G
  hgvsp: ENSP00000369726.2:p.Leu47Val
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000490918
  gene symbol: BPHL
  hgvsc: ENST00000490918.1:n.205C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137274
  ensembl transcript: ENST00000479273
  gene symbol: BPHL
  hgvsc: ENST00000479273.1:n.203C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000394072
  ensembl transcript: ENST00000424847
  gene symbol: BPHL
  hgvsc: ENST00000424847.2:c.*283C>G
  variant of: http://identifiers.org/hgnc/1094
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137274
  ensembl protein: ENSP00000413762
  ensembl transcript: ENST00000433912
  gene symbol: BPHL
  hgvsc: ENST00000433912.1:c.190C>G
  hgvsp: ENSP00000413762.1:p.Leu64Val
  variant of: http://identifiers.org/hgnc/1094
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu64Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.81354e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 7.62e0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.285677552069941e-4
allele num: 7778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 3.84317e5

VQSLOD
type: SiteQuality
SIO_000300: -1.211e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -7.117e0

MQ
type: SiteQuality
SIO_000300: 4.995e1

QD
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.272727272727273e-2
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.792667509481669e-4
allele num: 7910
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.937007874015748e-3
allele num: 508
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.358490566037736e-3
allele num: 1696
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.208333333333333e-3
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.231556839065371e-3
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.89239e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

East Asian
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: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.268703898840885e-4
allele num: 1898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.03e-2

FS
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.98927e5

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 270
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GenotypeQuality
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GenotypeQuality
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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: 223

GenotypeQuality
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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: 739
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variant carriers: 12

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 5

South Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.236636099306643e-4
allele num: 8942
num of homozygotes: 0

African
type: Population
allele count: 219
allele frequency: 9.042113955408754e-2
allele num: 2422
num of homozygotes: 9

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.068376068376068e-2
allele num: 468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 4.45242e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.2453300124533e-4
allele num: 8030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.38e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 4.56667e5

FS
type: SiteQuality
SIO_000300: 2.849e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.351e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.06096e5

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
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bin: 7.5e0
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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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
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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
all individuals: 1982
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variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.122861265718408e-4
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 9.656000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 1.565529e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6751
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609683858090271e-5
allele num: 62124
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
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: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.383e0

DP
type: SiteQuality
SIO_000300: 1.598205e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1173
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
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: 6.271951831409934e-5
allele num: 15944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582979801177737e-5
allele num: 63172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.698644e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -7.770000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.632e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.255473539346929e-5
allele num: 15986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.076e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.705101e6

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.0409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6905
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1233
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variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570401080435943e-5
allele num: 63678
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.729737e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.817e0

QD
type: SiteQuality
SIO_000300: 1.159e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.776e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

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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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: 0

GenotypeQuality
all individuals: 2716
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GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.2266500622665e-5
allele num: 16060
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.738097e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeQuality
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 751
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GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 21
allele frequency: 2.092467118373854e-3
allele num: 10036
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 1.762791e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.339e0

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545451735542299e-5
allele num: 64706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.767954e6

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 227
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GenotypeQuality
all individuals: 1378
bin: 9.25e1
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GenotypeQuality
all individuals: 471
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 1.609e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.988e-1

FS
type: SiteQuality
SIO_000300: 1.415e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.790211e6

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7059
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variant carriers: 1

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 4
bin: 1.75e1
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GenotypeQuality
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bin: 4.25e1
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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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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -3.06e-1

VQSLOD
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FS
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MQ
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QD
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InbreedingCoeff
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SIO_000300: 2.3e-3

DP
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BaseQRankSum
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SIO_000300: -4.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -4.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
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SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.835251e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-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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bin: 3.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.941e1

FS
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QD
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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SIO_000300: 2.38e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006704952043056e-5
allele num: 66518
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.065e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

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

BaseQRankSum
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SIO_000300: -1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
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SIO_000300: 1.840148e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.7e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.42e0

VQSLOD
type: SiteQuality
SIO_000300: -4.151e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Other
type: Population
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South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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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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African
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East Asian
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South Asian
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European (Finnish)
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Other
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Latino
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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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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East Asian
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South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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Other
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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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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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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DP
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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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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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VQSLOD
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BaseQRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.758e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
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: 66666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222942399412988e-4
allele num: 16354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 4.508e0

QD
type: SiteQuality
SIO_000300: 1.583e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.845613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 33
allele frequency: 2.001698410772777e-3
allele num: 16486
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 1.766e0

QD
type: SiteQuality
SIO_000300: 1.792e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.842682e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
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: 8648
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 2.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.383e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.824144e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 264
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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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bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.824144e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 2.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.816503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

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

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

FS
type: SiteQuality
SIO_000300: 1.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.912e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.816503e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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: 3
allele frequency: 4.508024283224139e-5
allele num: 66548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.815351e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 1337
bin: 3.75e1
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GenotypeQuality
all individuals: 2039
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.197e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-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
all individuals: 27
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1344
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.119e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.062e-1

InbreedingCoeff
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 5.7e-1

MQRankSum
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SIO_000300: -4.44e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.129e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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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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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: 900
num of homozygotes: 0

South Asian
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allele count: 0
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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QD
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
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SIO_000300: 2.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.025548324897566e-5
allele num: 66384
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.466e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.896825e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.067961165048543e-4
allele num: 11536
num of homozygotes: 0

African
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allele count: 235
allele frequency: 2.262661274792991e-2
allele num: 10386
num of homozygotes: 3

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.504e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.652892561983471e-4
allele num: 66550
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: -1.18e-1

VQSLOD
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ClippingRankSum
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SIO_000300: 2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

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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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66598
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Latino
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allele frequency: 6.054315862307559e-4
allele num: 11562
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South Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.500315022051544e-5
allele num: 66662
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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ClippingRankSum
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SIO_000300: -5.49e-1

FS
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11576
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.998590662388677e-5
allele num: 66698
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Other
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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

African
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 5.767012687427913e-4
allele num: 10404
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Other
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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66700
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Latino
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ClippingRankSum
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DP
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FS
type: SiteQuality
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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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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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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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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African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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QD
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DP
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.294e0

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

Latino
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Other
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allele frequency: 2.217294900221729e-3
allele num: 902
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European (Finnish)
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allele frequency: 1.528584530724549e-4
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 7.845030474926076e-4
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10404
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European (Finnish)
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Other
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South Asian
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East Asian
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Latino
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allele frequency: 1.727712508638562e-4
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European (Non-Finnish)
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allele frequency: 4.49599856128046e-4
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

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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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Other
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DP
type: SiteQuality
SIO_000300: 1.940571e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.733e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

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

East Asian
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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: 2.997062878379188e-5
allele num: 66732
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QD
type: SiteQuality
SIO_000300: 1.523e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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South Asian
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num of homozygotes: 0

African
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allele frequency: 2.499038831218762e-3
allele num: 10404
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQ
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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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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African
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Latino
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allele frequency: 7.774706288873532e-4
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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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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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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allele num: 66724
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African
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Other
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Latino
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European (Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.943e1

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7714
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.939584e6

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.601e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 6.94e0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8721
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 961
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.849283402681461e-3
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993884158772035e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.68787238131847e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.94195e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.896e0

MQ
type: SiteQuality
SIO_000300: 5.976e1