7-117227792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227792
    reference: chr 7
allele count: 11
allele frequency: 9.133481683217643e-5
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1585-1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1495-1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1402-1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000001626
  ensembl transcript: ENST00000472848
  gene symbol: CFTR
  hgvsc: ENST00000472848.1:n.138-1G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1585-1G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

7-117227795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227795
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227795
    reference: chr 7
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1587C>T
  hgvsp: ENST00000003084.6:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1497C>T
  hgvsp: ENST00000426809.1:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1404C>T
  hgvsp: ENST00000454343.1:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl transcript: ENST00000472848
  gene symbol: CFTR
  hgvsc: ENST00000472848.1:n.140C>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1587C>T
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

7-117227796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227796
    reference: chr 7
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1588A>G
  hgvsp: ENSP00000003084.6:p.Ile530Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1498A>G
  hgvsp: ENSP00000389119.1:p.Ile500Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1405A>G
  hgvsp: ENSP00000403677.1:p.Ile469Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000001626
  ensembl transcript: ENST00000472848
  gene symbol: CFTR
  hgvsc: ENST00000472848.1:n.141A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile530Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-117227798-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227798
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227798
    reference: chr 7
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1407C>G
  hgvsp: ENSP00000403677.1:p.Ile469Met
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1500C>G
  hgvsp: ENSP00000389119.1:p.Ile500Met
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1590C>G
  hgvsp: ENSP00000003084.6:p.Ile530Met
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000001626
  ensembl transcript: ENST00000472848
  gene symbol: CFTR
  hgvsc: ENST00000472848.1:n.143C>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile530Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117227809-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227809
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227809
    reference: chr 7
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1601C>A
  hgvsp: ENSP00000003084.6:p.Ala534Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1511C>A
  hgvsp: ENSP00000389119.1:p.Ala504Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1418C>A
  hgvsp: ENSP00000403677.1:p.Ala473Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala534Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-117227814-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227814
    reference: chr 7
allele count: 9
allele frequency: 7.451318055371572e-5
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1423A>G
  hgvsp: ENSP00000403677.1:p.Lys475Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1516A>G
  hgvsp: ENSP00000389119.1:p.Lys506Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1606A>G
  hgvsp: ENSP00000003084.6:p.Lys536Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys536Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

7-117227819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227819
    reference: chr 7
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1521C>T
  hgvsp: ENST00000426809.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1428C>T
  hgvsp: ENST00000454343.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1611C>T
  hgvsp: ENST00000003084.6:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp537Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

7-117227824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227824
    reference: chr 7
allele count: 4
allele frequency: 3.310436149962758e-5
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1433T>C
  hgvsp: ENSP00000403677.1:p.Ile478Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1526T>C
  hgvsp: ENSP00000389119.1:p.Ile509Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1616T>C
  hgvsp: ENSP00000003084.6:p.Ile539Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6623
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile539Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-117227832-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227832
    reference: chr 7
allele count: 32
allele frequency: 2.648918909969869e-4
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1624G>T
  hgvsp: ENSP00000003084.6:p.Gly542Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1441G>T
  hgvsp: ENSP00000403677.1:p.Gly481Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1534G>T
  hgvsp: ENSP00000389119.1:p.Gly512Ter
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly542Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-117227833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227833
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227833
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1442G>A
  hgvsp: ENSP00000403677.1:p.Gly481Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1535G>A
  hgvsp: ENSP00000389119.1:p.Gly512Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1625G>A
  hgvsp: ENSP00000003084.6:p.Gly542Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly542Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-117227837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227837
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227837
    reference: chr 7
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1446A>G
  hgvsp: ENST00000454343.1:c.1446A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1629A>G
  hgvsp: ENST00000003084.6:c.1629A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1539A>G
  hgvsp: ENST00000426809.1:c.1539A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu543Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-117227838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227838
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227838
    reference: chr 7
allele count: 9
allele frequency: 7.449344457687723e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1447G>A
  hgvsp: ENSP00000403677.1:p.Gly483Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1540G>A
  hgvsp: ENSP00000389119.1:p.Gly514Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1630G>A
  hgvsp: ENSP00000003084.6:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Gly544Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-117227840-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227840
    reference: chr 7
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1632T>G
  hgvsp: ENST00000003084.6:c.1632T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1542T>G
  hgvsp: ENST00000426809.1:c.1542T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1449T>G
  hgvsp: ENST00000454343.1:c.1449T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly544Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

7-117227847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227847
    reference: chr 7
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1456A>G
  hgvsp: ENSP00000403677.1:p.Thr486Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1549A>G
  hgvsp: ENSP00000389119.1:p.Thr517Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1639A>G
  hgvsp: ENSP00000003084.6:p.Thr547Ala
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr547Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/7-117227853-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227853
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227853
    reference: chr 7
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1645A>C
  hgvsp: ENSP00000003084.6:p.Ser549Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1555A>C
  hgvsp: ENSP00000389119.1:p.Ser519Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1462A>C
  hgvsp: ENSP00000403677.1:p.Ser488Arg
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser549Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-117227854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227854
    reference: chr 7
allele count: 13
allele frequency: 1.077104081395927e-4
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1463G>A
  hgvsp: ENSP00000403677.1:p.Ser488Asn
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1646G>A
  hgvsp: ENSP00000003084.6:p.Ser549Asn
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1556G>A
  hgvsp: ENSP00000389119.1:p.Ser519Asn
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser549Asn
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-117227860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227860
    reference: chr 7
allele count: 17
allele frequency: 1.410179839405402e-4
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1469G>A
  hgvsp: ENSP00000403677.1:p.Gly490Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1562G>A
  hgvsp: ENSP00000389119.1:p.Gly521Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1652G>A
  hgvsp: ENSP00000003084.6:p.Gly551Asp
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly551Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-117227865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227865
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227865
    reference: chr 7
allele count: 15
allele frequency: 1.245536826372166e-4
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1657C>T
  hgvsp: ENSP00000003084.6:p.Arg553Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1567C>T
  hgvsp: ENSP00000389119.1:p.Arg523Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1474C>T
  hgvsp: ENSP00000403677.1:p.Arg492Ter
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg553Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-117227874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227874
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227874
    reference: chr 7
allele count: 349
allele frequency: 2.910030851329942e-3
allele num: 119930
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1483A>G
  hgvsp: ENSP00000403677.1:p.Ile495Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1666A>G
  hgvsp: ENSP00000003084.6:p.Ile556Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1576A>G
  hgvsp: ENSP00000389119.1:p.Ile526Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 18852
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 25739
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6903
  bin: 9.75e1
  variant carriers: 336
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile556Val
num of homozygotes: 12
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-117227877-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227877
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227877
    reference: chr 7
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1579T>A
  hgvsp: ENSP00000389119.1:p.Ser527Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1486T>A
  hgvsp: ENSP00000403677.1:p.Ser496Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1669T>A
  hgvsp: ENSP00000003084.6:p.Ser557Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser557Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-117227882-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227882
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227882
    reference: chr 7
allele count: 2
allele frequency: 1.679627794480743e-5
allele num: 119074
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1491A>G
  hgvsp: ENST00000454343.1:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1584A>G
  hgvsp: ENST00000426809.1:c.1584A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1674A>G
  hgvsp: ENST00000003084.6:c.1674A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39887
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu558Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-117227883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227883
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227883
    reference: chr 7
allele count: 2
allele frequency: 1.68010752688172e-5
allele num: 119040
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1585G>A
  hgvsp: ENSP00000389119.1:p.Ala529Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1492G>A
  hgvsp: ENSP00000403677.1:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1675G>A
  hgvsp: ENSP00000003084.6:p.Ala559Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala559Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

7-117227887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227887
    reference: chr 7
allele count: 1
allele frequency: 8.430565859580495e-6
allele num: 118616
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679G>C
  hgvsp: ENSP00000003084.6:p.Arg560Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496G>C
  hgvsp: ENSP00000403677.1:p.Arg499Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589G>C
  hgvsp: ENSP00000389119.1:p.Arg530Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 447
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39219
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg560Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

7-117227895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227895
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227895
    reference: chr 7
allele count: 1
allele frequency: 8.506584096090374e-6
allele num: 117556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+8A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+8A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+8A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 457
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 36874
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 834
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 440
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genotype quality: GenotypeQuality
  all individuals: 4188
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genotype quality: GenotypeQuality
  all individuals: 966
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1679+8A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-117227896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227896
    reference: chr 7
allele count: 9
allele frequency: 7.671980223339868e-5
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+9C>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+9C>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+9C>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-117227903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227903
    reference: chr 7
allele count: 1
allele frequency: 8.619500758516067e-6
allele num: 116016
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+16T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+16T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+16T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

7-117227905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227905
    reference: chr 7
allele count: 2
allele frequency: 1.732831967284132e-5
allele num: 115418
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+18G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+18G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+18G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

7-117227905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227905
    reference: chr 7
allele count: 5
allele frequency: 4.332079918210331e-5
allele num: 115418
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+18G>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+18G>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+18G>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-117227911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227911
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227911
    reference: chr 7
allele count: 1
allele frequency: 8.748753302654372e-6
allele num: 114302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+24G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+24G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+24G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23331
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-117227921-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227921
    reference: chr 7
allele count: 5
allele frequency: 4.433488801007288e-5
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+34G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+34G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+34G>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-117227927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227927
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227927
    reference: chr 7
allele count: 1
allele frequency: 9.031139368542735e-6
allele num: 110728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+40A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+40A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+40A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-117227938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117227938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117227938
    reference: chr 7
allele count: 1
allele frequency: 9.629087547663984e-6
allele num: 103852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1589+51T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1679+51T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1496+51T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-117230359-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230359
    reference: chr 7
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1497-48A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1680-48A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1590-48A>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-117230388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230388
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230388
    reference: chr 7
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1680-19A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1590-19A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1497-19A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

7-117230394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230394
    reference: chr 7
allele count: 2
allele frequency: 1.662648599218555e-5
allele num: 120290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1497-13A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1590-13A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1680-13A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11807
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-117230406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230406
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230406
    reference: chr 7
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1590-1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1680-1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1497-1G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
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genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2628
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1680-1G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-117230407-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230407
    reference: chr 7
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1590A>C
  hgvsp: ENSP00000389119.1:p.Arg530Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1680A>C
  hgvsp: ENSP00000003084.6:p.Arg560Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1497A>C
  hgvsp: ENSP00000403677.1:p.Arg499Ser
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg560Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-117230411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230411
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230411
    reference: chr 7
allele count: 19
allele frequency: 1.575612830464059e-4
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1684G>A
  hgvsp: ENSP00000003084.6:p.Val562Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1501G>A
  hgvsp: ENSP00000403677.1:p.Val501Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1594G>A
  hgvsp: ENSP00000389119.1:p.Val532Ile
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11825
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val562Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-117230411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230411
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230411
    reference: chr 7
allele count: 4
allele frequency: 3.31707964308223e-5
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1594G>C
  hgvsp: ENSP00000389119.1:p.Val532Leu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1684G>C
  hgvsp: ENSP00000003084.6:p.Val562Leu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1501G>C
  hgvsp: ENSP00000403677.1:p.Val501Leu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11825
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val562Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

7-117230416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230416
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230416
    reference: chr 7
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1599C>T
  hgvsp: ENST00000426809.1:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1689C>T
  hgvsp: ENST00000003084.6:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1506C>T
  hgvsp: ENST00000454343.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr563Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-117230416-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230416
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230415
    reference: chr 7
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1602delA
  hgvsp: ENSP00000389119.1:p.Asp535MetfsTer7
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1509delA
  hgvsp: ENSP00000403677.1:p.Asp504MetfsTer7
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1692delA
  hgvsp: ENSP00000003084.6:p.Asp565MetfsTer7
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp565MetfsTer7
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: CA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

7-117230417-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230417
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230417
    reference: chr 7
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1507A>G
  hgvsp: ENSP00000403677.1:p.Lys503Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1690A>G
  hgvsp: ENSP00000003084.6:p.Lys564Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1600A>G
  hgvsp: ENSP00000389119.1:p.Lys534Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys564Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-117230420-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230420
    reference: chr 7
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1510G>C
  hgvsp: ENSP00000403677.1:p.Asp504His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1603G>C
  hgvsp: ENSP00000389119.1:p.Asp535His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1693G>C
  hgvsp: ENSP00000003084.6:p.Asp565His
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp565His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

7-117230420-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230420
    reference: chr 7
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1510G>T
  hgvsp: ENSP00000403677.1:p.Asp504Tyr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1693G>T
  hgvsp: ENSP00000003084.6:p.Asp565Tyr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1603G>T
  hgvsp: ENSP00000389119.1:p.Asp535Tyr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp565Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-117230432-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230432
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230432
    reference: chr 7
allele count: 12
allele frequency: 9.94266397109999e-5
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1705T>G
  hgvsp: ENSP00000003084.6:p.Tyr569Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1522T>G
  hgvsp: ENSP00000403677.1:p.Tyr508Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1615T>G
  hgvsp: ENSP00000389119.1:p.Tyr539Asp
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr569Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-117230434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230434
    reference: chr 7
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1707T>C
  hgvsp: ENST00000003084.6:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1524T>C
  hgvsp: ENST00000454343.1:c.1524T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1617T>C
  hgvsp: ENST00000426809.1:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr569Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

7-117230438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230438
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230438
    reference: chr 7
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1528T>C
  hgvsp: ENST00000454343.1:c.1528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1711T>C
  hgvsp: ENST00000003084.6:c.1711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1621T>C
  hgvsp: ENST00000426809.1:c.1621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1461
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genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11803
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu571Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-117230443-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230443
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230443
    reference: chr 7
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1626C>G
  hgvsp: ENSP00000389119.1:p.Asp542Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1533C>G
  hgvsp: ENSP00000403677.1:p.Asp511Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1716C>G
  hgvsp: ENSP00000003084.6:p.Asp572Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp572Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-117230445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230445
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230445
    reference: chr 7
allele count: 3
allele frequency: 2.487026014292109e-5
allele num: 120626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1628C>T
  hgvsp: ENSP00000389119.1:p.Ser543Phe
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1535C>T
  hgvsp: ENSP00000403677.1:p.Ser512Phe
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1718C>T
  hgvsp: ENSP00000003084.6:p.Ser573Phe
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 28104
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser573Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-117230451-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230451
    reference: chr 7
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1724T>A
  hgvsp: ENSP00000003084.6:p.Phe575Tyr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1541T>A
  hgvsp: ENSP00000403677.1:p.Phe514Tyr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1634T>A
  hgvsp: ENSP00000389119.1:p.Phe545Tyr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe575Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-117230454-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230454
    reference: chr 7
allele count: 623
allele frequency: 5.167379980757108e-3
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1727G>C
  hgvsp: ENSP00000003084.6:p.Gly576Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1637G>C
  hgvsp: ENSP00000389119.1:p.Gly546Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1544G>C
  hgvsp: ENSP00000403677.1:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12244
  bin: 9.75e1
  variant carriers: 622
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27815
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly576Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

7-117230454-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230454
    reference: chr 7
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1544G>T
  hgvsp: ENSP00000403677.1:p.Gly515Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1727G>T
  hgvsp: ENSP00000003084.6:p.Gly576Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1637G>T
  hgvsp: ENSP00000389119.1:p.Gly546Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly576Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

7-117230457-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230457
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230457
    reference: chr 7
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1547A>T
  hgvsp: ENSP00000403677.1:p.Tyr516Phe
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1730A>T
  hgvsp: ENSP00000003084.6:p.Tyr577Phe
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1640A>T
  hgvsp: ENSP00000389119.1:p.Tyr547Phe
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11705
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr577Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-117230458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230458
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230458
    reference: chr 7
allele count: 28
allele frequency: 2.323150191659891e-4
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1548C>T
  hgvsp: ENST00000454343.1:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1731C>T
  hgvsp: ENST00000003084.6:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1641C>T
  hgvsp: ENST00000426809.1:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11727
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr577Tyr
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: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-117230471-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230471
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230471
    reference: chr 7
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1744A>T
  hgvsp: ENSP00000003084.6:p.Thr582Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1561A>T
  hgvsp: ENSP00000403677.1:p.Thr521Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1654A>T
  hgvsp: ENSP00000389119.1:p.Thr552Ser
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11702
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr582Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117230473-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230473
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230473
    reference: chr 7
allele count: 1
allele frequency: 8.314348903337379e-6
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1746A>C
  hgvsp: ENST00000003084.6:c.1746A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1656A>C
  hgvsp: ENST00000426809.1:c.1656A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1563A>C
  hgvsp: ENST00000454343.1:c.1563A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr582Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-117230480-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230480
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230480
    reference: chr 7
allele count: 2
allele frequency: 1.664946222237022e-5
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1663G>T
  hgvsp: ENSP00000389119.1:p.Glu555Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1753G>T
  hgvsp: ENSP00000003084.6:p.Glu585Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1570G>T
  hgvsp: ENSP00000403677.1:p.Glu524Ter
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu585Ter
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-117230486-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230486
    reference: chr 7
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1759T>A
  hgvsp: ENSP00000003084.6:p.Phe587Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1669T>A
  hgvsp: ENSP00000389119.1:p.Phe557Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1576T>A
  hgvsp: ENSP00000403677.1:p.Phe526Ile
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe587Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

7-117230486-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230486
    reference: chr 7
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1669T>G
  hgvsp: ENSP00000389119.1:p.Phe557Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1759T>G
  hgvsp: ENSP00000003084.6:p.Phe587Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1576T>G
  hgvsp: ENSP00000403677.1:p.Phe526Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe587Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

7-117230489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230489
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230489
    reference: chr 7
allele count: 4
allele frequency: 3.334945223524703e-5
allele num: 119942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1672G>A
  hgvsp: ENSP00000389119.1:p.Glu558Lys
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1762G>A
  hgvsp: ENSP00000003084.6:p.Glu588Lys
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1579G>A
  hgvsp: ENSP00000403677.1:p.Glu527Lys
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 11703
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu588Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

7-117230490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230490
    reference: chr 7
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1580A>G
  hgvsp: ENSP00000403677.1:p.Glu527Gly
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1763A>G
  hgvsp: ENSP00000003084.6:p.Glu588Gly
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1673A>G
  hgvsp: ENSP00000389119.1:p.Glu558Gly
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3791
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu588Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

7-117230494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230494
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230494
    reference: chr 7
allele count: 2
allele frequency: 1.669923016548937e-5
allele num: 119766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+1G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+1G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1766+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-117230498-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230498
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230498
    reference: chr 7
allele count: 2
allele frequency: 1.672352665730149e-5
allele num: 119592
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+5G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+5G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+5G>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11699
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26343
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1766+5G>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

7-117230501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230501
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230501
    reference: chr 7
allele count: 2
allele frequency: 1.676108745935436e-5
allele num: 119324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+8C>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+8C>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+8C>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11700
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1766+8C>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-117230501-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230501
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230500
    reference: chr 7
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+11delT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+11delT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+11delT
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 25324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: CT
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-117230502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230502
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230502
    reference: chr 7
allele count: 1
allele frequency: 8.379139294811638e-6
allele num: 119344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+9T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+9T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+9T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-117230533-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230533
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230533
    reference: chr 7
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+40A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+40A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+40A>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-117230535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230535
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230535
    reference: chr 7
allele count: 4
allele frequency: 3.397258412461144e-5
allele num: 117742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+42A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+42A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+42A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11682
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-117230543-AAGAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117230543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117230539
    reference: chr 7
allele count: 1
allele frequency: 8.549054474575111e-6
allele num: 116972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1766+55_1766+58delAGAC
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1676+55_1676+58delAGAC
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1583+55_1583+58delAGAC
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: AAGAC
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/7-117231943-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231943
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231943
    reference: chr 7
allele count: 1
allele frequency: 1.098683776835351e-5
allele num: 91018
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-45A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-45A>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-45A>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16504
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-117231946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231946
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231946
    reference: chr 7
allele count: 2
allele frequency: 2.193559708695271e-5
allele num: 91176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-42G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-42G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-42G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

7-117231947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231947
    reference: chr 7
allele count: 1
allele frequency: 1.095794341318022e-5
allele num: 91258
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-41T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-41T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-41T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

7-117231953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231953
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231953
    reference: chr 7
allele count: 1
allele frequency: 1.085469899919675e-5
allele num: 92126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-35T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-35T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-35T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

7-117231955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231955
    reference: chr 7
allele count: 2
allele frequency: 2.155125967112778e-5
allele num: 92802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-33A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-33A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-33A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 522
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24928
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2644
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

7-117231965-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231965
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231965
    reference: chr 7
allele count: 3
allele frequency: 2.963606907179832e-5
allele num: 101228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-23T>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-23T>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-23T>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32314
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-117231967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117231967
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117231967
    reference: chr 7
allele count: 1
allele frequency: 9.620194712740986e-6
allele num: 103948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.1584-21A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.1767-21A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.1677-21A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34194
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42118
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.659275349202039e-4
allele num: 66294
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.758631e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

FS
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
all individuals: 6620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 11334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.217e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 1.759732e6

VQSLOD
type: SiteQuality
SIO_000300: -2.623e0

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.085e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.581e0

DP
type: SiteQuality
SIO_000300: 1.760081e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6620
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42370
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 1.760719e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42464
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.698e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.763749e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
all individuals: 1040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 9
allele frequency: 7.919746568109821e-4
allele num: 11364
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.764531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6620
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 8.99e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.764737e6

FS
type: SiteQuality
SIO_000300: 9.837999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.418e0

VQSLOD
type: SiteQuality
SIO_000300: -9.441000000000001e-1

GenotypeQuality
all individuals: 5647
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.764959e6

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42557
bin: 6.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.060516738352333e-4
allele num: 66494
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.521746786406058e-4
allele num: 11358
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

FS
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 1.766556e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

DP
type: SiteQuality
SIO_000300: 1.764951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.529e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.581e0

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 1030
bin: 8.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.764796e6

FS
type: SiteQuality
SIO_000300: 2.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.47112462006079e-4
allele num: 16450
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.078e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.765192e6

GenotypeQuality
all individuals: 42653
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-1

FS
type: SiteQuality
SIO_000300: 1.649e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 1.765041e6

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.805917576611483e-5
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 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: 10386
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.269e0

DP
type: SiteQuality
SIO_000300: 1.764451e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -8.287e-1

FS
type: SiteQuality
SIO_000300: 5.501e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
all individuals: 42464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 2.975e0

VQSLOD
type: SiteQuality
SIO_000300: -1.309e0

DP
type: SiteQuality
SIO_000300: 1.763601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 5.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 6619
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 427
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.26049908703591e-4
allele num: 16430
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.764317e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

GenotypeQuality
all individuals: 1493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.56263378455787e-4
allele num: 66338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.463e0

FS
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.762541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.112824846820199e-4
allele num: 66262
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.14e1

DP
type: SiteQuality
SIO_000300: 1.760493e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.86053517632465e-5
allele num: 11286
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.135722174499939e-5
allele num: 16298
num of homozygotes: 0

East Asian
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allele count: 345
allele frequency: 4.006038086391082e-2
allele num: 8612
num of homozygotes: 12

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.760096e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.35e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.567e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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GenotypeQuality
all individuals: 1422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.906305664410402e-5
allele num: 11228
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.743e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-4
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 3.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.734808e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536475938786798e-5
allele num: 65084
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

FS
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.725951e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64438
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South Asian
type: Population
allele count: 1
allele frequency: 6.275100401606425e-5
allele num: 15936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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ClippingRankSum
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SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 3.222e0

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

DP
type: SiteQuality
SIO_000300: 1.695521e6

VQSLOD
type: SiteQuality
SIO_000300: -1.405e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.399688958009331e-4
allele num: 64300
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e0

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.688982e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 15752
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.94431185361973e-5
allele num: 10056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.679e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.633617e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.1649575895683e-5
allele num: 63192
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 2.645e0

DP
type: SiteQuality
SIO_000300: 1.608357e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.912393973920749e-5
allele num: 63192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 1.608357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 514
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62554
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.430868167202572e-5
allele num: 15550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.102e0

QD
type: SiteQuality
SIO_000300: 4.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 1.538328e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.518055012384304e-5
allele num: 15342
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.488450558006747e-5
allele num: 61648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.345e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.445527e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.65508109897385e-5
allele num: 60420
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.59846547314578e-4
allele num: 6256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56288
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10044
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
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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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.975e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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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
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num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.246e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.994357e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

DP
type: SiteQuality
SIO_000300: 1.998023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.998229e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.80804580382703e-4
allele num: 66370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.229213874847481e-4
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 2.000026e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.786e0

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520114509567576e-5
allele num: 66370
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.786e0

FS
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 2.000026e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 2.995e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

DP
type: SiteQuality
SIO_000300: 1.999674e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 2.995e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

DP
type: SiteQuality
SIO_000300: 1.999674e6

QD
type: SiteQuality
SIO_000300: 1.025e1

GenotypeQuality
all individuals: 3117
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.999656e6

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
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South Asian
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allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 4.38e0

FS
type: SiteQuality
SIO_000300: 3.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.999972e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 3.353e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.999972e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

QD
type: SiteQuality
SIO_000300: 4.38e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

South Asian
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allele count: 12
allele frequency: 7.285089849441476e-4
allele num: 16472
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.001039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.000465e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.000504e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21447656060238e-4
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.156e1

FS
type: SiteQuality
SIO_000300: 2.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 2.000218e6

GenotypeQuality
all individuals: 6850
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517255917605252e-5
allele num: 66412
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.456e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.421e0

QD
type: SiteQuality
SIO_000300: 1.007e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 2.000068e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 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: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.999332e6

QD
type: SiteQuality
SIO_000300: 1.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.807e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 2214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6776
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 506
allele frequency: 7.620941020543406e-3
allele num: 66396
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 5.543237250554324e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 42
allele frequency: 6.363636363636364e-3
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 21
allele frequency: 2.075919335705812e-3
allele num: 10116
num of homozygotes: 0

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

Latino
type: Population
allele count: 49
allele frequency: 4.265320334261838e-3
allele num: 11488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.035735e6

QD
type: SiteQuality
SIO_000300: 1.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

GenotypeQuality
all individuals: 1438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
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: 11488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
SIO_000300: 2.035735e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.281e-1

FS
type: SiteQuality
SIO_000300: 1.904e0

DP
type: SiteQuality
SIO_000300: 1.997726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.916724413244554e-4
allele num: 66382
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

DP
type: SiteQuality
SIO_000300: 1.998939e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
all individuals: 3793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 1.3885e1

MQRankSum
type: SiteQuality
SIO_000300: -2.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.993614e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
all individuals: 3793
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 2.2085e1

DP
type: SiteQuality
SIO_000300: 1.99328e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -3.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11703
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.9187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.06e0

DP
type: SiteQuality
SIO_000300: 1.990081e6

VQSLOD
type: SiteQuality
SIO_000300: -8.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 1.988215e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 1.988215e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 9.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 27104
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.052902366684826e-5
allele num: 66084
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.986296e6

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.136e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.985429e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 3.031313468125739e-5
allele num: 65978
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11400
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16380
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 1.982325e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele frequency: 2.33590282644242e-4
allele num: 8562
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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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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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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ClippingRankSum
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QD
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.042750646584513e-5
allele num: 65730
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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MQ
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QD
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DP
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

Latino
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allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

African
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East Asian
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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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num of homozygotes: 0

MQ
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.746e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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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: 1.544687818591863e-5
allele num: 64738
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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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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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.872448e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64794
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.554923569143263e-4
allele num: 11252
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16228
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.855271e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
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bin: 5.75e1
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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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.997124141236619e-5
allele num: 50072
num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.987399816579609e-5
allele num: 50158
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African
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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 4648
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Other
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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MQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

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

East Asian
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South Asian
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European (Non-Finnish)
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allele num: 50588
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 1.519e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.312306e6