7-117254647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254647
    reference: chr 7
allele count: 4
allele frequency: 3.305785123966942e-5
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1636G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193-20C>T
  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.3278-20C>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.3368-20C>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.3185-20C>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117254648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254648
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254648
    reference: chr 7
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3185-19G>A
  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.3278-19G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193-19G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1635C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3368-19G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13503
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/7-117254661-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254661
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254661
    reference: chr 7
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
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.3368-6C>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1622G>T
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.3185-6C>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193-6C>A
  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.3278-6C>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3368-6C>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-117254664-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254661
    reference: chr 7
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1616_177+1618delCCT
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3368_3370delGAG
  hgvsp: ENSP00000003084.6:p.Gly1123del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3278_3280delGAG
  hgvsp: ENSP00000389119.1:p.Gly1093del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193_195delGAG
  hgvsp: ENSP00000419254.1:p.Gly65del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3185_3187delGAG
  hgvsp: ENSP00000403677.1:p.Gly1062del
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: c.3368_3370delGAG
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TAGG
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-117254665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254665
    reference: chr 7
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1618T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193-2A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3368-2A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3185-2A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3278-2A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3368-2A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-117254665-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254665
    reference: chr 7
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.193-2A>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3185-2A>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1618T>A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3278-2A>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3368-2A>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3368-2A>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-117254667-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254667
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254664
    reference: chr 7
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3281_3283delAAG
  hgvsp: ENSP00000389119.1:p.Glu1094del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3371_3373delAAG
  hgvsp: ENSP00000003084.6:p.Glu1124del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3188_3190delAAG
  hgvsp: ENSP00000403677.1:p.Glu1063del
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1613_177+1615delTCT
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.196_198delAAG
  hgvsp: ENSP00000419254.1:p.Glu66del
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13502
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1124del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: GAGA
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-117254674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254674
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254674
    reference: chr 7
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
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.3375A>G
  hgvsp: ENST00000003084.6:c.3375A>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.3285A>G
  hgvsp: ENST00000426809.1:c.3285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.200A>G
  hgvsp: ENST00000468795.1:c.200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1609T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3192A>G
  hgvsp: ENST00000454343.1:c.3192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly1125Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

7-117254688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254688
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254688
    reference: chr 7
allele count: 7
allele frequency: 5.774338838203026e-5
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1595C>G
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.3299G>C
  hgvsp: ENSP00000389119.1:p.Gly1100Ala
  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.3206G>C
  hgvsp: ENSP00000403677.1:p.Gly1069Ala
  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.3389G>C
  hgvsp: ENSP00000003084.6:p.Gly1130Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.214G>C
  hgvsp: ENSP00000419254.1:p.Gly72Ala
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1130Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

7-117254690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254690
    reference: chr 7
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
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.3208A>G
  hgvsp: ENSP00000403677.1:p.Ile1070Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.216A>G
  hgvsp: ENSP00000419254.1:p.Ile73Val
  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.3391A>G
  hgvsp: ENSP00000003084.6:p.Ile1131Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1593T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3301A>G
  hgvsp: ENSP00000389119.1:p.Ile1101Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1131Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-117254692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254692
    reference: chr 7
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.218T>C
  hgvsp: ENST00000468795.1:c.218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1591A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3393T>C
  hgvsp: ENST00000003084.6:c.3393T>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.3210T>C
  hgvsp: ENST00000454343.1:c.3210T>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.3303T>C
  hgvsp: ENST00000426809.1:c.3303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1131Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

7-117254705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254705
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254705
    reference: chr 7
allele count: 8
allele frequency: 6.597938144329897e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1578C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.231G>A
  hgvsp: ENSP00000419254.1:p.Ala78Thr
  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.3223G>A
  hgvsp: ENSP00000403677.1:p.Ala1075Thr
  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.3316G>A
  hgvsp: ENSP00000389119.1:p.Ala1106Thr
  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.3406G>A
  hgvsp: ENSP00000003084.6:p.Ala1136Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1136Thr
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117254708-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254708
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254708
    reference: chr 7
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.234A>G
  hgvsp: ENSP00000419254.1:p.Met79Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1575T>C
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.3409A>G
  hgvsp: ENSP00000003084.6:p.Met1137Val
  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.3319A>G
  hgvsp: ENSP00000389119.1:p.Met1107Val
  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.3226A>G
  hgvsp: ENSP00000403677.1:p.Met1076Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13495
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1137Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-117254709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254709
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254709
    reference: chr 7
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1574A>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.3410T>C
  hgvsp: ENSP00000003084.6:p.Met1137Thr
  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.3320T>C
  hgvsp: ENSP00000389119.1:p.Met1107Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.235T>C
  hgvsp: ENSP00000419254.1:p.Met79Thr
  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.3227T>C
  hgvsp: ENSP00000403677.1:p.Met1076Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1137Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

7-117254714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254714
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254714
    reference: chr 7
allele count: 8
allele frequency: 6.598155815449583e-5
allele num: 121246
alternate allele: G
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.3325A>G
  hgvsp: ENSP00000389119.1:p.Ile1109Val
  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.3232A>G
  hgvsp: ENSP00000403677.1:p.Ile1078Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1569T>C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.240A>G
  hgvsp: ENSP00000419254.1:p.Ile81Val
  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.3415A>G
  hgvsp: ENSP00000003084.6:p.Ile1139Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1139Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-117254717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254717
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254717
    reference: chr 7
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1566T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3418A>G
  hgvsp: ENSP00000003084.6:p.Met1140Val
  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.3328A>G
  hgvsp: ENSP00000389119.1:p.Met1110Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.243A>G
  hgvsp: ENSP00000419254.1:p.Met82Val
  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.3235A>G
  hgvsp: ENSP00000403677.1:p.Met1079Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1140Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-117254722-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254722
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254722
    reference: chr 7
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
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.3423T>A
  hgvsp: ENSP00000003084.6:p.Ser1141Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.248T>A
  hgvsp: ENSP00000419254.1:p.Ser83Arg
  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.3333T>A
  hgvsp: ENSP00000389119.1:p.Ser1111Arg
  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.3240T>A
  hgvsp: ENSP00000403677.1:p.Ser1080Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1561A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1141Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

7-117254728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254728
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254728
    reference: chr 7
allele count: 11
allele frequency: 9.076207135549028e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1555C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3429G>A
  hgvsp: ENST00000003084.6:c.3429G>A(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.3339G>A
  hgvsp: ENST00000426809.1:c.3339G>A(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.3246G>A
  hgvsp: ENST00000454343.1:c.3246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.254G>A
  hgvsp: ENST00000468795.1:c.254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1143Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-117254736-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254736
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254736
    reference: chr 7
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
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.3254C>A
  hgvsp: ENSP00000403677.1:p.Ala1085Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1547G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3347C>A
  hgvsp: ENSP00000389119.1:p.Ala1116Asp
  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.3437C>A
  hgvsp: ENSP00000003084.6:p.Ala1146Asp
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.262C>A
  hgvsp: ENSP00000419254.1:p.Ala88Asp
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1146Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117254743-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254743
    reference: chr 7
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
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.3444C>A
  hgvsp: ENSP00000003084.6:p.Asn1148Lys
  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.3354C>A
  hgvsp: ENSP00000389119.1:p.Asn1118Lys
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.269C>A
  hgvsp: ENSP00000419254.1:p.Asn90Lys
  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.3261C>A
  hgvsp: ENSP00000403677.1:p.Asn1087Lys
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1540G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1148Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117254744-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254744
    reference: chr 7
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.270T>C
  hgvsp: ENSP00000419254.1:p.Ser91Pro
  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.3262T>C
  hgvsp: ENSP00000403677.1:p.Ser1088Pro
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1539A>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.3445T>C
  hgvsp: ENSP00000003084.6:p.Ser1149Pro
  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.3355T>C
  hgvsp: ENSP00000389119.1:p.Ser1119Pro
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1149Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

7-117254753-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254753
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254753
    reference: chr 7
allele count: 32
allele frequency: 2.643841501701973e-4
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3364G>C
  hgvsp: ENSP00000389119.1:p.Asp1122His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3271G>C
  hgvsp: ENSP00000403677.1:p.Asp1091His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3454G>C
  hgvsp: ENSP00000003084.6:p.Asp1152His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1530C>G
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.279G>C
  hgvsp: ENSP00000419254.1:p.Asp94His
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13480
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1152His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

7-117254757-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254757
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254757
    reference: chr 7
allele count: 6
allele frequency: 4.960973673766371e-5
allele num: 120944
alternate allele: A
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.3458T>A
  hgvsp: ENSP00000003084.6:p.Val1153Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1526A>T
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.3368T>A
  hgvsp: ENSP00000389119.1:p.Val1123Glu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.283T>A
  hgvsp: ENSP00000419254.1:p.Val95Glu
  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.3275T>A
  hgvsp: ENSP00000403677.1:p.Val1092Glu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13459
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1153Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

7-117254767-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254767
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254767
    reference: chr 7
allele count: 24
allele frequency: 1.987775182626845e-4
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1516C>A
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.3378G>T
  hgvsp: ENSP00000389119.1:p.Leu1126Phe
  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.3468G>T
  hgvsp: ENSP00000003084.6:p.Leu1156Phe
  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: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293G>T
  hgvsp: ENSP00000419254.1:p.Leu98Phe
  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.3285G>T
  hgvsp: ENSP00000403677.1:p.Leu1095Phe
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13462
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1156Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-117254773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254773
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254773
    reference: chr 7
allele count: 10
allele frequency: 8.310203267571925e-5
allele num: 120334
alternate allele: C
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.3378+6T>C
  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.3468+6T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1510A>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.3285+6T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+6T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: c.3468+6T>C
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-117254778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254778
    reference: chr 7
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1505A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3468+11T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+11T>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.3285+11T>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.3378+11T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

7-117254794-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254794
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254794
    reference: chr 7
allele count: 1
allele frequency: 8.401102224611869e-6
allele num: 119032
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.3468+27T>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+27T>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1489A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3285+27T>A
  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.3378+27T>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-117254794-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254794
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254793
    reference: chr 7
allele count: 1
allele frequency: 8.401102224611869e-6
allele num: 119032
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.3378+28delA
  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.3468+28delA
  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.3285+28delA
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+28delA
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1488delT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: TA
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

7-117254796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254796
    reference: chr 7
allele count: 4
allele frequency: 3.365473606273243e-5
allele num: 118854
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.3378+29T>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.3285+29T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1487A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3468+29T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+29T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13431
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117254808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254808
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254808
    reference: chr 7
allele count: 1
allele frequency: 8.4742890071523e-6
allele num: 118004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1475T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3285+41A>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.3468+41A>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.3378+41A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+41A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.75e1
  variant carriers: 0
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: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

7-117254813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254813
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254813
    reference: chr 7
allele count: 1
allele frequency: 8.516726851536417e-6
allele num: 117416
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.3378+46A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1470T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3285+46A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+46A>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.3468+46A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

7-117254814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254814
    reference: chr 7
allele count: 3
allele frequency: 2.555888767720829e-5
allele num: 117376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1469C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3468+47G>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+47G>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.3285+47G>A
  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.3378+47G>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-117254818-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254818
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254818
    reference: chr 7
allele count: 6
allele frequency: 5.129081894340913e-5
allele num: 116980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1465G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+51C>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.3468+51C>A
  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.3378+51C>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.3285+51C>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-117254819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117254819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117254819
    reference: chr 7
allele count: 3
allele frequency: 2.563620515800448e-5
allele num: 117022
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.3378+52A>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.3468+52A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.177+1464T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3285+52A>G
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.293+52A>G
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13412
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

7-117267534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267534
    reference: chr 7
allele count: 3
allele frequency: 2.575903283418052e-5
allele num: 116464
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.3379-42C>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-42C>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.3286-42C>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11140G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3469-42C>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18654
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117267540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267540
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267540
    reference: chr 7
allele count: 4
allele frequency: 3.425361375625129e-5
allele num: 116776
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.3379-36T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-36T>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.3286-36T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11146A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3469-36T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8507
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-117267555-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267555
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267552
    reference: chr 7
allele count: 3
allele frequency: 2.543709406637386e-5
allele num: 117938
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.3469-16_3469-14delGTT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11164_66-11162delACA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3379-16_3379-14delGTT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-16_294-14delGTT
  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.3286-16_3286-14delGTT
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: ATGT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-117267556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267556
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267556
    reference: chr 7
allele count: 222
allele frequency: 1.880590946055842e-3
allele num: 118048
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11162A>G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3286-20T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3379-20T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-20T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3469-20T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29114
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30053
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 7
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-117267559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267559
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267559
    reference: chr 7
allele count: 81
allele frequency: 6.84537894665675e-4
allele num: 118328
alternate allele: C
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.3469-17T>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.3379-17T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-17T>C
  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.3286-17T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11165A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29513
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11696
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-117267560-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267560
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267560
    reference: chr 7
allele count: 1
allele frequency: 8.44409166905916e-6
allele num: 118426
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.3286-16G>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-16G>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.3379-16G>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.3469-16G>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11166C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

7-117267560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267560
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267560
    reference: chr 7
allele count: 1
allele frequency: 8.44409166905916e-6
allele num: 118426
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.3379-16G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-16G>T
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11166C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3469-16G>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.3286-16G>T
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

7-117267560-G-GTTATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267560
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267566
    reference: chr 7
allele count: 1
allele frequency: 8.44409166905916e-6
allele num: 118426
alternate allele: GTTATTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3469-9_3469-4dupTTATTT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-9_294-4dupTTATTT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3286-9_3286-4dupTTATTT
  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.3379-9_3379-4dupTTATTT
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

7-117267569-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267569
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267568
    reference: chr 7
allele count: 1
allele frequency: 8.379139294811638e-6
allele num: 119344
alternate allele: A
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.3379-4delT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-4delT
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11176delA
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.3286-4delT
  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.3469-4delT
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
hgvs: c.3469-4delT
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: AT
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

7-117267570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267570
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267570
    reference: chr 7
allele count: 1
allele frequency: 8.370162046337218e-6
allele num: 119472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-6T>C
  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.3469-6T>C
  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.3286-6T>C
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11176A>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.3379-6T>C
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
hgvs: c.3469-6T>C
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: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/7-117267573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267573
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267573
    reference: chr 7
allele count: 4
allele frequency: 3.342413556829387e-5
allele num: 119674
alternate allele: A
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.3379-3C>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11179G>T
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.3286-3C>A
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.294-3C>A
  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.3469-3C>A
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30928
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33026
  bin: 6.25e1
  variant carriers: 0
hgvs: c.3469-3C>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-117267578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267578
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267578
    reference: chr 7
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3381G>A
  hgvsp: ENSP00000389119.1:p.Met1127Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.296G>A
  hgvsp: ENSP00000419254.1:p.Met99Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3471G>A
  hgvsp: ENSP00000003084.6:p.Met1157Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11184C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3288G>A
  hgvsp: ENSP00000403677.1:p.Met1096Ile
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1157Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

7-117267579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267579
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267579
    reference: chr 7
allele count: 5
allele frequency: 4.164445628997868e-5
allele num: 120064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.297C>T
  hgvsp: ENSP00000419254.1:p.Arg100Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3382C>T
  hgvsp: ENSP00000389119.1:p.Arg1128Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3472C>T
  hgvsp: ENSP00000003084.6:p.Arg1158Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11185G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3289C>T
  hgvsp: ENSP00000403677.1:p.Arg1097Ter
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1158Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

7-117267580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267580
    reference: chr 7
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
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.3383G>A
  hgvsp: ENSP00000389119.1:p.Arg1128Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.298G>A
  hgvsp: ENSP00000419254.1:p.Arg100Gln
  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.3290G>A
  hgvsp: ENSP00000403677.1:p.Arg1097Gln
  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.3473G>A
  hgvsp: ENSP00000003084.6:p.Arg1158Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11186C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1158Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-117267582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267582
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267582
    reference: chr 7
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: C
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.3292T>C
  hgvsp: ENSP00000403677.1:p.Ser1098Pro
  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.3385T>C
  hgvsp: ENSP00000389119.1:p.Ser1129Pro
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.300T>C
  hgvsp: ENSP00000419254.1:p.Ser101Pro
  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.3475T>C
  hgvsp: ENSP00000003084.6:p.Ser1159Pro
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11188A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1159Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-117267591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267591
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267591
    reference: chr 7
allele count: 6
allele frequency: 4.982892070557752e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.309C>T
  hgvsp: ENSP00000419254.1:p.Arg104Ter
  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.3394C>T
  hgvsp: ENSP00000389119.1:p.Arg1132Ter
  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.3484C>T
  hgvsp: ENSP00000003084.6:p.Arg1162Ter
  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.3301C>T
  hgvsp: ENSP00000403677.1:p.Arg1101Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11197G>A
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8547
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1162Ter
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-117267592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267592
    reference: chr 7
allele count: 82
allele frequency: 6.807691030451964e-4
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11198C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3395G>T
  hgvsp: ENSP00000389119.1:p.Arg1132Leu
  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.3485G>T
  hgvsp: ENSP00000003084.6:p.Arg1162Leu
  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.3302G>T
  hgvsp: ENSP00000403677.1:p.Arg1101Leu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.310G>T
  hgvsp: ENSP00000419254.1:p.Arg104Leu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1162Leu
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-117267592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267592
    reference: chr 7
allele count: 19
allele frequency: 1.577391824129114e-4
allele num: 120452
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.3302G>A
  hgvsp: ENSP00000403677.1:p.Arg1101Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.310G>A
  hgvsp: ENSP00000419254.1:p.Arg104Gln
  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.3395G>A
  hgvsp: ENSP00000389119.1:p.Arg1132Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11198C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3485G>A
  hgvsp: ENSP00000003084.6:p.Arg1162Gln
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1162Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-117267601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267601
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267601
    reference: chr 7
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
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.3404A>G
  hgvsp: ENSP00000389119.1:p.Lys1135Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11207T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3311A>G
  hgvsp: ENSP00000403677.1:p.Lys1104Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.319A>G
  hgvsp: ENSP00000419254.1:p.Lys107Arg
  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.3494A>G
  hgvsp: ENSP00000003084.6:p.Lys1165Arg
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1165Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

7-117267603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267603
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267603
    reference: chr 7
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11209A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3313T>C
  hgvsp: ENSP00000403677.1:p.Phe1105Leu
  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.3496T>C
  hgvsp: ENSP00000003084.6:p.Phe1166Leu
  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.3406T>C
  hgvsp: ENSP00000389119.1:p.Phe1136Leu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.321T>C
  hgvsp: ENSP00000419254.1:p.Phe108Leu
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1166Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-117267618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267618
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267618
    reference: chr 7
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.336A>G
  hgvsp: ENSP00000419254.1:p.Thr113Ala
  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.3511A>G
  hgvsp: ENSP00000003084.6:p.Thr1171Ala
  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.3421A>G
  hgvsp: ENSP00000389119.1:p.Thr1141Ala
  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.3328A>G
  hgvsp: ENSP00000403677.1:p.Thr1110Ala
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11224T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1171Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-117267624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267624
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267624
    reference: chr 7
allele count: 6
allele frequency: 4.968944099378882e-5
allele num: 120750
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.3427G>A
  hgvsp: ENSP00000389119.1:p.Gly1143Ser
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11230C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.342G>A
  hgvsp: ENSP00000419254.1:p.Gly115Ser
  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.3334G>A
  hgvsp: ENSP00000403677.1:p.Gly1112Ser
  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.3517G>A
  hgvsp: ENSP00000003084.6:p.Gly1173Ser
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1173Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-117267628-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267628
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267628
    reference: chr 7
allele count: 2
allele frequency: 1.655738790648387e-5
allele num: 120792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.346A>C
  hgvsp: ENSP00000419254.1:p.Lys116Thr
  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.3521A>C
  hgvsp: ENSP00000003084.6:p.Lys1174Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11234T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3431A>C
  hgvsp: ENSP00000389119.1:p.Lys1144Thr
  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.3338A>C
  hgvsp: ENSP00000403677.1:p.Lys1113Thr
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1174Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117267633-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267633
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267632
    reference: chr 7
allele count: 39
allele frequency: 3.228583727938011e-4
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3438delC
  hgvsp: ENSP00000389119.1:p.Lys1147SerfsTer15
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11240delG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3528delC
  hgvsp: ENSP00000003084.6:p.Lys1177SerfsTer15
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.353delC
  hgvsp: ENSP00000419254.1:p.Lys119SerfsTer15
  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.3345delC
  hgvsp: ENSP00000403677.1:p.Lys1116SerfsTer15
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8591
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1177SerfsTer15
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: AC
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117267637-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267637
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267637
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
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.3530A>C
  hgvsp: ENSP00000003084.6:p.Lys1177Thr
  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.3347A>C
  hgvsp: ENSP00000403677.1:p.Lys1116Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.355A>C
  hgvsp: ENSP00000419254.1:p.Lys119Thr
  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.3440A>C
  hgvsp: ENSP00000389119.1:p.Lys1147Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11243T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7094
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1177Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

7-117267637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267637
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267637
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
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.3530A>G
  hgvsp: ENSP00000003084.6:p.Lys1177Arg
  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.3347A>G
  hgvsp: ENSP00000403677.1:p.Lys1116Arg
  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.3440A>G
  hgvsp: ENSP00000389119.1:p.Lys1147Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.355A>G
  hgvsp: ENSP00000419254.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11243T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1177Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-117267638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267638
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267638
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3441G>A
  hgvsp: ENST00000426809.1:c.3441G>A(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.3531G>A
  hgvsp: ENST00000003084.6:c.3531G>A(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.3348G>A
  hgvsp: ENST00000454343.1:c.3348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11244C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.356G>A
  hgvsp: ENST00000468795.1:c.356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1177Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-117267644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267644
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267644
    reference: chr 7
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3537C>T
  hgvsp: ENST00000003084.6:c.3537C>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.3354C>T
  hgvsp: ENST00000454343.1:c.3354C>T(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.3447C>T
  hgvsp: ENST00000426809.1:c.3447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.362C>T
  hgvsp: ENST00000468795.1:c.362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11250G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1179Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-117267649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267649
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267649
    reference: chr 7
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
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.3359C>A
  hgvsp: ENSP00000403677.1:p.Pro1120Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11255G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3452C>A
  hgvsp: ENSP00000389119.1:p.Pro1151Gln
  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.3542C>A
  hgvsp: ENSP00000003084.6:p.Pro1181Gln
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.367C>A
  hgvsp: ENSP00000419254.1:p.Pro123Gln
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33419
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1181Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

7-117267651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267651
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267651
    reference: chr 7
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.369T>C
  hgvsp: ENSP00000419254.1:p.Tyr124His
  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.3361T>C
  hgvsp: ENSP00000403677.1:p.Tyr1121His
  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.3454T>C
  hgvsp: ENSP00000389119.1:p.Tyr1152His
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11257A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3544T>C
  hgvsp: ENSP00000003084.6:p.Tyr1182His
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1182His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-117267665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267665
    reference: chr 7
allele count: 22
allele frequency: 1.820137337635476e-4
allele num: 120870
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3468A>G
  hgvsp: ENST00000426809.1:c.3468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.383A>G
  hgvsp: ENST00000468795.1:c.383A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11271T>C
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3558A>G
  hgvsp: ENST00000003084.6:c.3558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3375A>G
  hgvsp: ENST00000454343.1:c.3375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1186Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/7-117267666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267666
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267666
    reference: chr 7
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
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.3559C>A
  hgvsp: ENSP00000003084.6:p.Leu1187Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.384C>A
  hgvsp: ENSP00000419254.1:p.Leu129Ile
  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.3376C>A
  hgvsp: ENSP00000403677.1:p.Leu1126Ile
  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.3469C>A
  hgvsp: ENSP00000389119.1:p.Leu1157Ile
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11272G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1187Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-117267666-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267666
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267666
    reference: chr 7
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
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.3376C>G
  hgvsp: ENSP00000403677.1:p.Leu1126Val
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11272G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.384C>G
  hgvsp: ENSP00000419254.1:p.Leu129Val
  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.3469C>G
  hgvsp: ENSP00000389119.1:p.Leu1157Val
  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.3559C>G
  hgvsp: ENSP00000003084.6:p.Leu1187Val
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1187Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-117267669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267669
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267669
    reference: chr 7
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
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.3379T>C
  hgvsp: ENSP00000403677.1:p.Ser1127Pro
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.387T>C
  hgvsp: ENSP00000419254.1:p.Ser130Pro
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11275A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3472T>C
  hgvsp: ENSP00000389119.1:p.Ser1158Pro
  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.3562T>C
  hgvsp: ENSP00000003084.6:p.Ser1188Pro
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1188Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-117267671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267671
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267671
    reference: chr 7
allele count: 16
allele frequency: 1.3237143424449e-4
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.389G>A
  hgvsp: ENST00000468795.1:c.389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11277C>T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3381G>A
  hgvsp: ENST00000454343.1:c.3381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000389119
  ensembl transcript: ENST00000426809
  gene symbol: CFTR
  hgvsc: ENST00000426809.1:c.3474G>A
  hgvsp: ENST00000426809.1:c.3474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000003084
  ensembl transcript: ENST00000003084
  gene symbol: CFTR
  hgvsc: ENST00000003084.6:c.3564G>A
  hgvsp: ENST00000003084.6:c.3564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1188Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

7-117267679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267679
    reference: chr 7
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
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.3389T>C
  hgvsp: ENSP00000403677.1:p.Met1130Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.397T>C
  hgvsp: ENSP00000419254.1:p.Met133Thr
  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.3572T>C
  hgvsp: ENSP00000003084.6:p.Met1191Thr
  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.3482T>C
  hgvsp: ENSP00000389119.1:p.Met1161Thr
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11285A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1191Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-117267694-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267694
    reference: chr 7
allele count: 2
allele frequency: 1.653931394925738e-5
allele num: 120924
alternate allele: G
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.3587C>G
  hgvsp: ENSP00000003084.6:p.Ser1196Ter
  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.3497C>G
  hgvsp: ENSP00000389119.1:p.Ser1166Ter
  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.3404C>G
  hgvsp: ENSP00000403677.1:p.Ser1135Ter
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11300G>C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.412C>G
  hgvsp: ENSP00000419254.1:p.Ser138Ter
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8584
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1196Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-117267695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267695
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267695
    reference: chr 7
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11301T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3405A>G
  hgvsp: ENST00000454343.1:c.3405A>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.3588A>G
  hgvsp: ENST00000003084.6:c.3588A>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.3498A>G
  hgvsp: ENST00000426809.1:c.3498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.413A>G
  hgvsp: ENST00000468795.1:c.413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1196Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

7-117267697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267697
    reference: chr 7
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
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.3500A>G
  hgvsp: ENSP00000389119.1:p.His1167Arg
  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.3590A>G
  hgvsp: ENSP00000003084.6:p.His1197Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.415A>G
  hgvsp: ENSP00000419254.1:p.His139Arg
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11303T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000403677
  ensembl transcript: ENST00000454343
  gene symbol: CFTR
  hgvsc: ENST00000454343.1:c.3407A>G
  hgvsp: ENSP00000403677.1:p.His1136Arg
  variant of: http://identifiers.org/hgnc/1884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His1197Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

7-117267697-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117267697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 117267697
    reference: chr 7
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000001626
  ensembl protein: ENSP00000419254
  ensembl transcript: ENST00000468795
  gene symbol: CFTR
  hgvsc: ENST00000468795.1:c.415A>T
  hgvsp: ENSP00000419254.1:p.His139Leu
  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.3500A>T
  hgvsp: ENSP00000389119.1:p.His1167Leu
  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.3590A>T
  hgvsp: ENSP00000003084.6:p.His1197Leu
  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.3407A>T
  hgvsp: ENSP00000403677.1:p.His1136Leu
  variant of: http://identifiers.org/hgnc/1884
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083622
  ensembl transcript: ENST00000456270
  gene symbol: AC000111.6
  hgvsc: ENST00000456270.1:n.66-11303T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His1197Leu
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 13506
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 8.25e1
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: 16480
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506263706552107e-5
allele num: 66574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 2.250538e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.471e0

FS
type: SiteQuality
SIO_000300: 2.495e0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
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: 6596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.250844e6

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.149e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 2.252498e6

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27070
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.859e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 7.59e0

DP
type: SiteQuality
SIO_000300: 2.252887e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
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: 16492
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 2.25298e6

QD
type: SiteQuality
SIO_000300: 1.465e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13502
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.25298e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.352e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 2.253247e6

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.123e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

DP
type: SiteQuality
SIO_000300: 2.253736e6

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13502
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501425270801452e-5
allele num: 66654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 1.807e0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 2.254587e6

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.25409e6

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 2.25409e6

VQSLOD
type: SiteQuality
SIO_000300: -9.391e-1

GenotypeQuality
all individuals: 13499
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.608e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.25461e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 27177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 2.254297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13492
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2678
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 3.463e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 2.254289e6

GenotypeQuality
all individuals: 13491
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8150
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200048001920077e-4
allele num: 66664
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 2.255171e6

GenotypeQuality
all individuals: 13484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3642
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.869e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 2.25396e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 3643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

DP
type: SiteQuality
SIO_000300: 2.253843e6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.574e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 2544
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13487
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.650709805216243e-4
allele num: 66638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 2.254277e6

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.613e0

MQ
type: SiteQuality
SIO_000300: 4.078e1

MQRankSum
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

QD
type: SiteQuality
SIO_000300: 7.24e0

DP
type: SiteQuality
SIO_000300: 2.253153e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.079e0

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.252535e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13474
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 8.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

DP
type: SiteQuality
SIO_000300: 2.252478e6

FS
type: SiteQuality
SIO_000300: 5.251e0

VQSLOD
type: SiteQuality
SIO_000300: -3.999e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -1.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.137e0

GenotypeQuality
all individuals: 8119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.235602094240838e-4
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.755332572252599e-4
allele num: 66572
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.252814e6

FS
type: SiteQuality
SIO_000300: 1.396e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.458e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 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: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.516084420660213e-5
allele num: 66524
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.249619e6

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

GenotypeQuality
all individuals: 1136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 23
allele frequency: 2.675040707141195e-3
allele num: 8598
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.245861e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13444
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.871513822920473e-4
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 2.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.234449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13438
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759943681802182e-4
allele num: 11364
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: 8534
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: 66046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.243e0

VQSLOD
type: SiteQuality
SIO_000300: -9.624e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.225602e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 1.746e1

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65400
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.139645e6

FS
type: SiteQuality
SIO_000300: 8.038e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21070
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
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: 8358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.347e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 8.038e0

DP
type: SiteQuality
SIO_000300: 2.139645e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 7.25e1
variant carriers: 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: 11268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.125949522175937e-5
allele num: 65296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 2.118966e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
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variant carriers: 0

GenotypeQuality
all individuals: 5413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.914244963451596e-5
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64778
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 2.026511e6

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.479e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.539882968894364e-4
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64424
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -5.193e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.993312e6

GenotypeQuality
all individuals: 1638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8958
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 3
allele frequency: 1.849796522382538e-4
allele num: 16218
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.992672e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.786e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 736
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
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variant carriers: 0

GenotypeQuality
all individuals: 3995
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variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13410
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.794961336991769e-5
allele num: 64144
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.635e0

DP
type: SiteQuality
SIO_000300: 1.984901e6

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6547
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variant carriers: 0

GenotypeQuality
all individuals: 3554
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variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.851851851851852e-4
allele num: 16200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64146
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

DP
type: SiteQuality
SIO_000300: 1.984628e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5462
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variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.799532121648371e-4
allele num: 11114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566563273490616e-5
allele num: 63834
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.555075e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.74e0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
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variant carriers: 0

GenotypeQuality
all individuals: 1437
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GenotypeQuality
all individuals: 1353
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variant carriers: 0

GenotypeQuality
all individuals: 22618
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.490970232905717e-4
allele num: 16058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63992
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

QD
type: SiteQuality
SIO_000300: 1.539e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.589934e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 1374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8526
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2264
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GenotypeQuality
all individuals: 752
bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544783266907653e-5
allele num: 64734
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.236858379715523e-4
allele num: 16170
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.668831e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.826e1

QD
type: SiteQuality
SIO_000300: 2.807e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 215

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2422
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GenotypeQuality
all individuals: 6499
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08641975308642e-5
allele num: 64800
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.677615137450911e-4
allele num: 11204
num of homozygotes: 0

South Asian
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allele count: 215
allele frequency: 1.328636756890372e-2
allele num: 16182
num of homozygotes: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.395e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 1.675819e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 1383
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 815
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GenotypeQuality
all individuals: 8567
bin: 9.75e1
variant carriers: 79

East Asian
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 3.764967287989137e-3
allele num: 16202
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.616109076359607e-4
allele num: 64982
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.683553e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.539408866995074e-4
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.685627e6

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 30885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
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: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.685627e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

FS
type: SiteQuality
SIO_000300: 8.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 772
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
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: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 1.685627e6

QD
type: SiteQuality
SIO_000300: 1.197e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.08e1

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.707906e6

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

FS
type: SiteQuality
SIO_000300: 3.174e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

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

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
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: 16324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e0

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: -4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.709897e6

FS
type: SiteQuality
SIO_000300: 1.229e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 6858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.748338081671415e-4
allele num: 8424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

DP
type: SiteQuality
SIO_000300: 1.715257e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 4.045e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 6926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182592242194891e-4
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 6.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

FS
type: SiteQuality
SIO_000300: 4.651e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.720891e6

VQSLOD
type: SiteQuality
SIO_000300: -8.068e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 7.25e1
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GenotypeQuality
all individuals: 2365
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53953938807009e-5
allele num: 66086
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: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.804e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.72239e6

QD
type: SiteQuality
SIO_000300: 9.68e0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.723741e6

QD
type: SiteQuality
SIO_000300: 1.534e1

FS
type: SiteQuality
SIO_000300: 7.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

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

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 9.25e1
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: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
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: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.724526e6

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 3.372e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.342e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

GenotypeQuality
all individuals: 33527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2379
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.035003017501508e-5
allele num: 66280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.728878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

FS
type: SiteQuality
SIO_000300: 1.278e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8632
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.191589489879031e-3
allele num: 66298
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 1.73217e6

GenotypeQuality
all individuals: 3355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8632
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.861003861003861e-4
allele num: 10360
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: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.960843464357899e-4
allele num: 66298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 1.73217e6

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7056
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33637
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
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: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.731872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.392e1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 4.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

GenotypeQuality
all individuals: 1408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.732099e6

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 8559
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 7.75e1
variant carriers: 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: 11406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
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: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.796e1

VQSLOD
type: SiteQuality
SIO_000300: -2.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.481e0

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

DP
type: SiteQuality
SIO_000300: 1.734562e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 33558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8558
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.781460782424359e-4
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 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: 66478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.735697e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e0

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8554
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.655e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.735768e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.040437823046519e-4
allele num: 6578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.564244465832531e-4
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.73743e6

FS
type: SiteQuality
SIO_000300: 1.129e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.38e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33485
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1050
bin: 8.75e1
variant carriers: 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: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

DP
type: SiteQuality
SIO_000300: 1.73693e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 33485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8567
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7094
bin: 6.75e1
variant carriers: 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: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.73693e6

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
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: 11428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.08e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 5.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

VQSLOD
type: SiteQuality
SIO_000300: -7.73e-1

DP
type: SiteQuality
SIO_000300: 1.73712e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.359e0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7089
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
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: 66512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.022e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.872e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 1.737242e6

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 9.25e1
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GenotypeQuality
all individuals: 3367
bin: 7.75e1
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: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 9.632999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 1.737461e6

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.632e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 3.126e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.613e1

DP
type: SiteQuality
SIO_000300: 1.737352e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 7106
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variant carriers: 0

GenotypeQuality
all individuals: 8590
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.856026215314313e-4
allele num: 66526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.739371e6

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 1.101e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 6586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.598e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.738701e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 5.86e-1

QD
type: SiteQuality
SIO_000300: 1.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8581
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
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: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.738701e6

FS
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.598e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 1.604e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeQuality
all individuals: 8579
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variant carriers: 2

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 2389
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variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 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: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.738767e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

GenotypeQuality
all individuals: 2619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 8591
bin: 9.75e1
variant carriers: 16

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.239259517988125e-4
allele num: 11452
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006795357507968e-5
allele num: 66516
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.029053420805998e-4
allele num: 8536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 1.739822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -8.341e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 2.347e0

QD
type: SiteQuality
SIO_000300: 7.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.739658e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.03e-1

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.740453e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
all individuals: 33344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 8584
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.740388e6

FS
type: SiteQuality
SIO_000300: 1.508e0

QD
type: SiteQuality
SIO_000300: 1.109e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 8.75e1
variant carriers: 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: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

East Asian
type: Population
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.740466e6

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1