8-92330576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330576
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330576
    reference: chr 8
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.610C>T
  hgvsp: ENSP00000428849.1:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.610C>T
  hgvsp: ENSP00000428881.1:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.213C>T
  hgvsp: ENSP00000428747.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.610C>T
  hgvsp: ENSP00000309504.2:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.610C>T
  hgvsp: ENSP00000427712.1:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.610C>T
  hgvsp: ENSP00000276609.3:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro204Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-92330577-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330577
    reference: chr 8
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.611C>A
  hgvsp: ENSP00000427712.1:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.611C>A
  hgvsp: ENSP00000428881.1:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.214C>A
  hgvsp: ENSP00000428747.1:p.Pro72Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.611C>A
  hgvsp: ENSP00000276609.3:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.611C>A
  hgvsp: ENSP00000309504.2:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.611C>A
  hgvsp: ENSP00000428849.1:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro204Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

8-92330580-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330580
    reference: chr 8
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.614A>G
  hgvsp: ENSP00000428881.1:p.Tyr205Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.614A>G
  hgvsp: ENSP00000427712.1:p.Tyr205Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.614A>G
  hgvsp: ENSP00000276609.3:p.Tyr205Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.217A>G
  hgvsp: ENSP00000428747.1:p.Tyr73Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.614A>G
  hgvsp: ENSP00000309504.2:p.Tyr205Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.614A>G
  hgvsp: ENSP00000428849.1:p.Tyr205Cys
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr205Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-92330581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330581
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330581
    reference: chr 8
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.615T>C
  hgvsp: ENST00000522181.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.218T>C
  hgvsp: ENST00000520818.1:c.218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.615T>C
  hgvsp: ENST00000523719.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.615T>C
  hgvsp: ENST00000309536.2:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.615T>C
  hgvsp: ENST00000522862.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.615T>C
  hgvsp: ENST00000276609.3:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr205Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

8-92330582-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330582
    reference: chr 8
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.616A>G
  hgvsp: ENSP00000427712.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.616A>G
  hgvsp: ENSP00000276609.3:p.Ile206Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.616A>G
  hgvsp: ENSP00000428849.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.616A>G
  hgvsp: ENSP00000428881.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.616A>G
  hgvsp: ENSP00000309504.2:p.Ile206Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.219A>G
  hgvsp: ENSP00000428747.1:p.Ile74Val
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile206Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-92330587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330587
    reference: chr 8
allele count: 24
allele frequency: 1.994051080941857e-4
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428881
  ensembl transcript: ENST00000522862
  gene symbol: SLC26A7
  hgvsc: ENST00000522862.1:c.621C>T
  hgvsp: ENST00000522862.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.621C>T
  hgvsp: ENST00000309536.2:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.224C>T
  hgvsp: ENST00000520818.1:c.224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.621C>T
  hgvsp: ENST00000523719.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.621C>T
  hgvsp: ENST00000522181.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.621C>T
  hgvsp: ENST00000276609.3:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser207Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-92330588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330588
    reference: chr 8
allele count: 3
allele frequency: 2.495591122350514e-5
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.225G>A
  hgvsp: ENSP00000428747.1:p.Gly76Arg
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.622G>A
  hgvsp: ENSP00000428849.1:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.622G>A
  hgvsp: ENSP00000276609.3:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.622G>A
  hgvsp: ENSP00000309504.2:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.622G>A
  hgvsp: ENSP00000427712.1:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10243
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly208Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/8-92330592-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330592
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330592
    reference: chr 8
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.626C>A
  hgvsp: ENSP00000427712.1:p.Pro209Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.626C>A
  hgvsp: ENSP00000309504.2:p.Pro209Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.229C>A
  hgvsp: ENSP00000428747.1:p.Pro77Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.626C>A
  hgvsp: ENSP00000276609.3:p.Pro209Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.626C>A
  hgvsp: ENSP00000428849.1:p.Pro209Gln
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro209Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-92330603-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330603
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330603
    reference: chr 8
allele count: 2
allele frequency: 1.676867611302088e-5
allele num: 119270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.240T>G
  hgvsp: ENSP00000428747.1:p.Phe81Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.637T>G
  hgvsp: ENSP00000309504.2:p.Phe213Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.637T>G
  hgvsp: ENSP00000428849.1:p.Phe213Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.637T>G
  hgvsp: ENSP00000427712.1:p.Phe213Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.637T>G
  hgvsp: ENSP00000276609.3:p.Phe213Val
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe213Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-92330604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330604
    reference: chr 8
allele count: 1
allele frequency: 8.4071763657458e-6
allele num: 118946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.638T>C
  hgvsp: ENSP00000427712.1:p.Phe213Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.638T>C
  hgvsp: ENSP00000309504.2:p.Phe213Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.241T>C
  hgvsp: ENSP00000428747.1:p.Phe81Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.638T>C
  hgvsp: ENSP00000428849.1:p.Phe213Ser
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.638T>C
  hgvsp: ENSP00000276609.3:p.Phe213Ser
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe213Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-92330609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330609
    reference: chr 8
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+1G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+1G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+1G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+1G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+1G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: c.642+1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

8-92330613-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330613
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330615
    reference: chr 8
allele count: 3
allele frequency: 2.535454099829279e-5
allele num: 118322
alternate allele: GAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+5_642+6insAA
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+5_245+6insAA
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+5_642+6insAA
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+5_642+6insAA
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+5_642+6insAA
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30411
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: c.642+5_642+6insAA
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

8-92330614-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330614
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330614
    reference: chr 8
allele count: 3
allele frequency: 2.538156959626383e-5
allele num: 118196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+6T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+6T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+6T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+6T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+6T>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30411
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
hgvs: c.642+6T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-92330617-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330617
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330617
    reference: chr 8
allele count: 1
allele frequency: 8.494156020657787e-6
allele num: 117728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+9T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+9T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+9T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+9T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+9T>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-92330619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330619
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330619
    reference: chr 8
allele count: 113
allele frequency: 9.607699763633581e-4
allele num: 117614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+11C>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+11C>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+11C>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+11C>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+11C>T
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30441
  bin: 9.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

8-92330620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330620
    reference: chr 8
allele count: 21
allele frequency: 1.785410644448223e-4
allele num: 117620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+12G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+12G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+12G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+12G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+12G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

8-92330622-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330622
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330621
    reference: chr 8
allele count: 1
allele frequency: 8.515711487694797e-6
allele num: 117430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+15delT
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+15delT
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+15delT
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+15delT
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+15delT
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: AT
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

8-92330624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330624
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330624
    reference: chr 8
allele count: 1
allele frequency: 8.525149190110827e-6
allele num: 117300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+16G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+16G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+16G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+16G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+16G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-92330636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330636
    reference: chr 8
allele count: 3
allele frequency: 2.580290024598765e-5
allele num: 116266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+28A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+28A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+28A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+28A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+28A>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 0
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: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

8-92330649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92330649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92330649
    reference: chr 8
allele count: 3
allele frequency: 2.60973954799311e-5
allele num: 114954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.642+41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.245+41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.642+41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.642+41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.642+41G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30379
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

8-92346473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346473
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346473
    reference: chr 8
allele count: 23
allele frequency: 1.977678034016062e-4
allele num: 116298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-50A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-50A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-50A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-50A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-50A>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22786
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-92346481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346481
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346481
    reference: chr 8
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-42G>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-42G>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-42G>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-42G>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-42G>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

8-92346482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346482
    reference: chr 8
allele count: 1
allele frequency: 8.5794196880523e-6
allele num: 116558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37690
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

8-92346483-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346483
    reference: chr 8
allele count: 11
allele frequency: 9.43736165685753e-5
allele num: 116558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-40T>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-40T>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-40T>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-40T>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-40T>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-92346486-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346486
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346486
    reference: chr 8
allele count: 1
allele frequency: 8.571036752605596e-6
allele num: 116672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-37C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-37C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-37C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-37C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-37C>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

8-92346490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346490
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346490
    reference: chr 8
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-33G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-33G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-33G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-33G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-33G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40912
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genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
  all individuals: 55
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genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

8-92346497-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346497
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346497
    reference: chr 8
allele count: 4
allele frequency: 3.40338636943759e-5
allele num: 117530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-26G>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-26G>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-26G>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-26G>T
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-26G>T
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5539
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genotype quality: GenotypeQuality
  all individuals: 331
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genotype quality: GenotypeQuality
  all individuals: 1209
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 419
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-92346499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346499
    reference: chr 8
allele count: 1
allele frequency: 8.493290300662476e-6
allele num: 117740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-24T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-24T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-24T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-24T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-24T>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-92346502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346502
    reference: chr 8
allele count: 3
allele frequency: 2.542803865061875e-5
allele num: 117980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-21T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-21T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-21T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-21T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-21T>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

8-92346506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346506
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346506
    reference: chr 8
allele count: 5
allele frequency: 4.224899869873084e-5
allele num: 118346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643-17T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643-17T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246-17T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643-17T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643-17T>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

8-92346523-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346523
    reference: chr 8
allele count: 3006
allele frequency: 2.505125256262813e-2
allele num: 119994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.643A>G
  hgvsp: ENSP00000427712.1:p.Ile215Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.643A>G
  hgvsp: ENSP00000309504.2:p.Ile215Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.643A>G
  hgvsp: ENSP00000276609.3:p.Ile215Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.643A>G
  hgvsp: ENSP00000428849.1:p.Ile215Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.246A>G
  hgvsp: ENSP00000428747.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 23158
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 24450
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 3.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 254
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45234
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5604
  bin: 9.75e1
  variant carriers: 2935
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile215Val
num of homozygotes: 63
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

8-92346527-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346527
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346527
    reference: chr 8
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.647A>G
  hgvsp: ENSP00000428849.1:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.647A>G
  hgvsp: ENSP00000427712.1:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.250A>G
  hgvsp: ENSP00000428747.1:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.647A>G
  hgvsp: ENSP00000276609.3:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.647A>G
  hgvsp: ENSP00000309504.2:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr216Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

8-92346531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346531
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346531
    reference: chr 8
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.651A>G
  hgvsp: ENST00000276609.3:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.254A>G
  hgvsp: ENST00000520818.1:c.254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.651A>G
  hgvsp: ENST00000523719.1:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.651A>G
  hgvsp: ENST00000522181.1:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.651A>G
  hgvsp: ENST00000309536.2:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala217Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

8-92346540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346540
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.660T>C
  hgvsp: ENST00000276609.3:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.660T>C
  hgvsp: ENST00000522181.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.660T>C
  hgvsp: ENST00000523719.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.263T>C
  hgvsp: ENST00000520818.1:c.263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.660T>C
  hgvsp: ENST00000309536.2:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe220Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-92346545-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346545
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346545
    reference: chr 8
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.268A>T
  hgvsp: ENSP00000428747.1:p.Asn90Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.665A>T
  hgvsp: ENSP00000428849.1:p.Asn222Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.665A>T
  hgvsp: ENSP00000427712.1:p.Asn222Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.665A>T
  hgvsp: ENSP00000276609.3:p.Asn222Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.665A>T
  hgvsp: ENSP00000309504.2:p.Asn222Ile
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn222Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-92346549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346549
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346549
    reference: chr 8
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.669C>T
  hgvsp: ENST00000309536.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.669C>T
  hgvsp: ENST00000522181.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.669C>T
  hgvsp: ENST00000276609.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.272C>T
  hgvsp: ENST00000520818.1:c.272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.669C>T
  hgvsp: ENST00000523719.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile223Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-92346556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346556
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346556
    reference: chr 8
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.676G>T
  hgvsp: ENSP00000427712.1:p.Val226Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.676G>T
  hgvsp: ENSP00000428849.1:p.Val226Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.676G>T
  hgvsp: ENSP00000309504.2:p.Val226Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.676G>T
  hgvsp: ENSP00000276609.3:p.Val226Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.279G>T
  hgvsp: ENSP00000428747.1:p.Val94Leu
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val226Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

8-92346557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346557
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346557
    reference: chr 8
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.677T>C
  hgvsp: ENSP00000276609.3:p.Val226Ala
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.677T>C
  hgvsp: ENSP00000427712.1:p.Val226Ala
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.280T>C
  hgvsp: ENSP00000428747.1:p.Val94Ala
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.677T>C
  hgvsp: ENSP00000428849.1:p.Val226Ala
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.677T>C
  hgvsp: ENSP00000309504.2:p.Val226Ala
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val226Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

8-92346558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346558
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346558
    reference: chr 8
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.281G>A
  hgvsp: ENST00000520818.1:c.281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.678G>A
  hgvsp: ENST00000522181.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.678G>A
  hgvsp: ENST00000309536.2:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.678G>A
  hgvsp: ENST00000523719.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.678G>A
  hgvsp: ENST00000276609.3:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val226Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/8-92346559-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346559
    reference: chr 8
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.282C>A
  hgvsp: ENST00000520818.1:c.282C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.679C>A
  hgvsp: ENST00000522181.1:c.679C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.679C>A
  hgvsp: ENST00000276609.3:c.679C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.679C>A
  hgvsp: ENST00000309536.2:c.679C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.679C>A
  hgvsp: ENST00000523719.1:c.679C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg227Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-92346559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346559
    reference: chr 8
allele count: 2
allele frequency: 1.653083827880912e-5
allele num: 120986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.679C>T
  hgvsp: ENSP00000428849.1:p.Arg227Ter
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.282C>T
  hgvsp: ENSP00000428747.1:p.Arg95Ter
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.679C>T
  hgvsp: ENSP00000309504.2:p.Arg227Ter
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.679C>T
  hgvsp: ENSP00000427712.1:p.Arg227Ter
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.679C>T
  hgvsp: ENSP00000276609.3:p.Arg227Ter
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg227Ter
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-92346560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346560
    reference: chr 8
allele count: 20
allele frequency: 1.652947204866277e-4
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.680G>A
  hgvsp: ENSP00000428849.1:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.283G>A
  hgvsp: ENSP00000428747.1:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.680G>A
  hgvsp: ENSP00000309504.2:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.680G>A
  hgvsp: ENSP00000427712.1:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.680G>A
  hgvsp: ENSP00000276609.3:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg227Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

8-92346560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346560
    reference: chr 8
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.680G>T
  hgvsp: ENSP00000428849.1:p.Arg227Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.680G>T
  hgvsp: ENSP00000276609.3:p.Arg227Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.680G>T
  hgvsp: ENSP00000309504.2:p.Arg227Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.283G>T
  hgvsp: ENSP00000428747.1:p.Arg95Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.680G>T
  hgvsp: ENSP00000427712.1:p.Arg227Leu
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg227Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-92346561-A-AATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346561
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346564
    reference: chr 8
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: AATG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.681_682insATG
  hgvsp: ENSP00000276609.3:p.Arg227_Leu228insMet
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.681_682insATG
  hgvsp: ENSP00000427712.1:p.Arg227_Leu228insMet
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.681_682insATG
  hgvsp: ENSP00000309504.2:p.Arg227_Leu228insMet
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.681_682insATG
  hgvsp: ENSP00000428849.1:p.Arg227_Leu228insMet
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.284_285insATG
  hgvsp: ENSP00000428747.1:p.Arg95_Leu96insMet
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg227_Leu228insMet
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-92346563-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346563
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346561
    reference: chr 8
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.684_685delGG
  hgvsp: ENSP00000428849.1:p.Glu229SerfsTer16
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.287_288delGG
  hgvsp: ENSP00000428747.1:p.Glu97SerfsTer16
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.684_685delGG
  hgvsp: ENSP00000309504.2:p.Glu229SerfsTer16
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.684_685delGG
  hgvsp: ENSP00000427712.1:p.Glu229SerfsTer16
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.684_685delGG
  hgvsp: ENSP00000276609.3:p.Glu229SerfsTer16
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu229SerfsTer16
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: TGG
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

8-92346565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346565
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346565
    reference: chr 8
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.685G>A
  hgvsp: ENSP00000427712.1:p.Glu229Lys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.685G>A
  hgvsp: ENSP00000428849.1:p.Glu229Lys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.288G>A
  hgvsp: ENSP00000428747.1:p.Glu97Lys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.685G>A
  hgvsp: ENSP00000276609.3:p.Glu229Lys
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.685G>A
  hgvsp: ENSP00000309504.2:p.Glu229Lys
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu229Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

8-92346567-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346567
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346567
    reference: chr 8
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.687A>T
  hgvsp: ENSP00000276609.3:p.Glu229Asp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.687A>T
  hgvsp: ENSP00000427712.1:p.Glu229Asp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.290A>T
  hgvsp: ENSP00000428747.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.687A>T
  hgvsp: ENSP00000309504.2:p.Glu229Asp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.687A>T
  hgvsp: ENSP00000428849.1:p.Glu229Asp
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu229Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-92346569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346569
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346569
    reference: chr 8
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.689C>T
  hgvsp: ENSP00000427712.1:p.Ala230Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.689C>T
  hgvsp: ENSP00000309504.2:p.Ala230Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.689C>T
  hgvsp: ENSP00000276609.3:p.Ala230Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.689C>T
  hgvsp: ENSP00000428849.1:p.Ala230Val
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.292C>T
  hgvsp: ENSP00000428747.1:p.Ala98Val
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala230Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-92346575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346575
    reference: chr 8
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.695T>C
  hgvsp: ENSP00000428849.1:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.695T>C
  hgvsp: ENSP00000427712.1:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.695T>C
  hgvsp: ENSP00000276609.3:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.695T>C
  hgvsp: ENSP00000309504.2:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.298T>C
  hgvsp: ENSP00000428747.1:p.Leu100Pro
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu232Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

8-92346580-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346580
    reference: chr 8
allele count: 3
allele frequency: 2.478929102627665e-5
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.700T>A
  hgvsp: ENSP00000428849.1:p.Ser234Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.700T>A
  hgvsp: ENSP00000276609.3:p.Ser234Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.700T>A
  hgvsp: ENSP00000309504.2:p.Ser234Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.700T>A
  hgvsp: ENSP00000427712.1:p.Ser234Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.303T>A
  hgvsp: ENSP00000428747.1:p.Ser102Thr
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser234Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-92346590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346590
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346590
    reference: chr 8
allele count: 4
allele frequency: 3.305894409732553e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.710G>A
  hgvsp: ENSP00000276609.3:p.Ser237Asn
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.710G>A
  hgvsp: ENSP00000309504.2:p.Ser237Asn
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.710G>A
  hgvsp: ENSP00000427712.1:p.Ser237Asn
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.313G>A
  hgvsp: ENSP00000428747.1:p.Ser105Asn
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.710G>A
  hgvsp: ENSP00000428849.1:p.Ser237Asn
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser237Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-92346593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346593
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346593
    reference: chr 8
allele count: 6
allele frequency: 4.960153434079561e-5
allele num: 120964
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.713T>C
  hgvsp: ENSP00000309504.2:p.Ile238Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.713T>C
  hgvsp: ENSP00000276609.3:p.Ile238Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.713T>C
  hgvsp: ENSP00000428849.1:p.Ile238Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.713T>C
  hgvsp: ENSP00000427712.1:p.Ile238Thr
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.316T>C
  hgvsp: ENSP00000428747.1:p.Ile106Thr
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile238Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

8-92346598-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346598
    reference: chr 8
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.718G>T
  hgvsp: ENSP00000309504.2:p.Val240Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.718G>T
  hgvsp: ENSP00000428849.1:p.Val240Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.718G>T
  hgvsp: ENSP00000427712.1:p.Val240Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.718G>T
  hgvsp: ENSP00000276609.3:p.Val240Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.321G>T
  hgvsp: ENSP00000428747.1:p.Val108Phe
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val240Phe
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/8-92346600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346600
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346600
    reference: chr 8
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.720C>A
  hgvsp: ENST00000276609.3:c.720C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.720C>A
  hgvsp: ENST00000523719.1:c.720C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.720C>A
  hgvsp: ENST00000522181.1:c.720C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.323C>A
  hgvsp: ENST00000520818.1:c.323C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.720C>A
  hgvsp: ENST00000309536.2:c.720C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val240Val
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: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-92346608-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346608
    reference: chr 8
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.728T>A
  hgvsp: ENSP00000428849.1:p.Leu243His
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.728T>A
  hgvsp: ENSP00000276609.3:p.Leu243His
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.728T>A
  hgvsp: ENSP00000427712.1:p.Leu243His
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.331T>A
  hgvsp: ENSP00000428747.1:p.Leu111His
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.728T>A
  hgvsp: ENSP00000309504.2:p.Leu243His
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu243His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

8-92346608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346608
    reference: chr 8
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.728T>C
  hgvsp: ENSP00000276609.3:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.728T>C
  hgvsp: ENSP00000428849.1:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.331T>C
  hgvsp: ENSP00000428747.1:p.Leu111Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.728T>C
  hgvsp: ENSP00000309504.2:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.728T>C
  hgvsp: ENSP00000427712.1:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu243Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-92346646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346646
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346646
    reference: chr 8
allele count: 3
allele frequency: 2.563489079536521e-5
allele num: 117028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.369A>G
  hgvsp: ENSP00000428747.1:p.Lys124Glu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.766A>G
  hgvsp: ENSP00000309504.2:p.Lys256Glu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.766A>G
  hgvsp: ENSP00000428849.1:p.Lys256Glu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.766A>G
  hgvsp: ENSP00000427712.1:p.Lys256Glu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.766A>G
  hgvsp: ENSP00000276609.3:p.Lys256Glu
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys256Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-92346651-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346651
    reference: chr 8
allele count: 1
allele frequency: 8.721285168582443e-6
allele num: 114662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.771T>A
  hgvsp: ENST00000276609.3:c.771T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.374T>A
  hgvsp: ENST00000520818.1:c.374T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.771T>A
  hgvsp: ENST00000523719.1:c.771T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.771T>A
  hgvsp: ENST00000309536.2:c.771T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.771T>A
  hgvsp: ENST00000522181.1:c.771T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val257Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

8-92346652-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346652
    reference: chr 8
allele count: 5
allele frequency: 4.362164331454695e-5
allele num: 114622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.772G>C
  hgvsp: ENSP00000427712.1:p.Val258Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.375G>C
  hgvsp: ENSP00000428747.1:p.Val126Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.772G>C
  hgvsp: ENSP00000428849.1:p.Val258Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.772G>C
  hgvsp: ENSP00000309504.2:p.Val258Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.772G>C
  hgvsp: ENSP00000276609.3:p.Val258Leu
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24376
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val258Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-92346655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346655
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346655
    reference: chr 8
allele count: 1
allele frequency: 8.796776860958145e-6
allele num: 113678
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.775C>A
  hgvsp: ENSP00000309504.2:p.Leu259Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.775C>A
  hgvsp: ENSP00000428849.1:p.Leu259Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.775C>A
  hgvsp: ENSP00000276609.3:p.Leu259Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.378C>A
  hgvsp: ENSP00000428747.1:p.Leu127Ile
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.775C>A
  hgvsp: ENSP00000427712.1:p.Leu259Ile
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu259Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

8-92346655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346655
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346655
    reference: chr 8
allele count: 1
allele frequency: 8.796776860958145e-6
allele num: 113678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.775C>T
  hgvsp: ENSP00000428849.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.775C>T
  hgvsp: ENSP00000276609.3:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.775C>T
  hgvsp: ENSP00000427712.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.378C>T
  hgvsp: ENSP00000428747.1:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.775C>T
  hgvsp: ENSP00000309504.2:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu259Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

8-92346661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346661
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346661
    reference: chr 8
allele count: 1
allele frequency: 9.008846687447073e-6
allele num: 111002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.781G>C
  hgvsp: ENSP00000427712.1:p.Val261Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.781G>C
  hgvsp: ENSP00000428849.1:p.Val261Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.384G>C
  hgvsp: ENSP00000428747.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.781G>C
  hgvsp: ENSP00000276609.3:p.Val261Leu
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.781G>C
  hgvsp: ENSP00000309504.2:p.Val261Leu
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22280
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val261Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-92346663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346663
    reference: chr 8
allele count: 1
allele frequency: 9.036688957166094e-6
allele num: 110660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.783A>G
  hgvsp: ENST00000523719.1:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.783A>G
  hgvsp: ENST00000276609.3:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.783A>G
  hgvsp: ENST00000522181.1:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.386A>G
  hgvsp: ENST00000520818.1:c.386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.783A>G
  hgvsp: ENST00000309536.2:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val261Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-92346674-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346674
    reference: chr 8
allele count: 1
allele frequency: 9.539072039072039e-6
allele num: 104832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.794T>G
  hgvsp: ENSP00000276609.3:p.Leu265Trp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.397T>G
  hgvsp: ENSP00000428747.1:p.Leu133Trp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.794T>G
  hgvsp: ENSP00000428849.1:p.Leu265Trp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.794T>G
  hgvsp: ENSP00000427712.1:p.Leu265Trp
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.794T>G
  hgvsp: ENSP00000309504.2:p.Leu265Trp
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu265Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-92346679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346679
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346679
    reference: chr 8
allele count: 2
allele frequency: 1.958211761019837e-5
allele num: 102134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+4A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+4A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+4A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+4A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+4A>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
hgvs: c.795+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

8-92346683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346683
    reference: chr 8
allele count: 111
allele frequency: 1.1089132650003e-3
allele num: 100098
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+8T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+8T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+8T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+8T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+8T>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 9.75e1
  variant carriers: 108
hgvs: c.795+8T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

8-92346684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346684
    reference: chr 8
allele count: 4
allele frequency: 4.008819402685909e-5
allele num: 99780
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+9A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+9A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+9A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+9A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+9A>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-92346694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346694
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346694
    reference: chr 8
allele count: 1
allele frequency: 1.070274204251129e-5
allele num: 93434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+19T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+19T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+19T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+19T>C
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+19T>C
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-92346697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346697
    reference: chr 8
allele count: 5
allele frequency: 5.375534865719139e-5
allele num: 93014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+22A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+22A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+22A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+22A>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+22A>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/8-92346699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346699
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346699
    reference: chr 8
allele count: 9
allele frequency: 9.87968736278212e-5
allele num: 91096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+24C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+24C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+24C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+24C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+24C>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-92346702-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346702
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346702
    reference: chr 8
allele count: 2
allele frequency: 2.227270702481179e-5
allele num: 89796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+27T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+27T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+27T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+27T>G
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+27T>G
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-92346710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346710
    reference: chr 8
allele count: 5
allele frequency: 5.966729516217571e-5
allele num: 83798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+35G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+35G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+35G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+35G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+35G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-92346711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92346711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92346711
    reference: chr 8
allele count: 1
allele frequency: 1.230587482464128e-5
allele num: 81262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.398+36C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.795+36C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.795+36C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.795+36C>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.795+36C>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-92350336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92350336
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 92350336
    reference: chr 8
allele count: 1
allele frequency: 9.033586876004987e-6
allele num: 110698
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000309504
  ensembl transcript: ENST00000309536
  gene symbol: SLC26A7
  hgvsc: ENST00000309536.2:c.796-42G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428747
  ensembl transcript: ENST00000520818
  gene symbol: SLC26A7
  hgvsc: ENST00000520818.1:c.399-42G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000276609
  ensembl transcript: ENST00000276609
  gene symbol: SLC26A7
  hgvsc: ENST00000276609.3:c.796-42G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000428849
  ensembl transcript: ENST00000523719
  gene symbol: SLC26A7
  hgvsc: ENST00000523719.1:c.796-42G>A
  variant of: http://identifiers.org/hgnc/14467
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147606
  ensembl protein: ENSP00000427712
  ensembl transcript: ENST00000522181
  gene symbol: SLC26A7
  hgvsc: ENST00000522181.1:c.796-2296G>A
  variant of: http://identifiers.org/hgnc/14467
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 6.676e0

DP
type: SiteQuality
SIO_000300: 2.697302e6

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e-1

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

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11089
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 2.697235e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: -3.187e0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.519e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 2.695087e6

FS
type: SiteQuality
SIO_000300: 5.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.825e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.776e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 1.666e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

DP
type: SiteQuality
SIO_000300: 2.694298e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 12
allele frequency: 7.531065645788879e-4
allele num: 15934
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.626492106276473e-4
allele num: 10388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.592e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.155e1

DP
type: SiteQuality
SIO_000300: 2.690637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
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: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740038280842179e-4
allele num: 11494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

DP
type: SiteQuality
SIO_000300: 2.687433e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.152e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
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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: 11494
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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African
type: Population
allele count: 0
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.026084851419234e-5
allele num: 66092
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East Asian
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allele frequency: 0.0e0
allele num: 8642
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African
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3679
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

East Asian
type: Population
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South Asian
type: Population
allele count: 0
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African
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allele frequency: 9.645061728395061e-5
allele num: 10368
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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
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allele num: 876
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

European (Finnish)
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allele num: 6610
num of homozygotes: 0

East Asian
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South Asian
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1859
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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African
type: Population
allele count: 0
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South Asian
type: Population
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allele frequency: 2.061572292468389e-4
allele num: 14552
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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FS
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DP
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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: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.072109407376709e-4
allele num: 14478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

QD
type: SiteQuality
SIO_000300: 1.642e1

FS
type: SiteQuality
SIO_000300: 7.002e0

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.811e0

DP
type: SiteQuality
SIO_000300: 2.650517e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 2.641455e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 3726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.990562740300594e-4
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.127056154282473e-4
allele num: 14104
num of homozygotes: 0

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

African
type: Population
allele count: 97
allele frequency: 9.38467492260062e-3
allele num: 10336
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.617306520414382e-5
allele num: 65640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.64544e6

QD
type: SiteQuality
SIO_000300: 1.293e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

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

GenotypeQuality
all individuals: 7312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30397
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.417635384179189e-4
allele num: 14108
num of homozygotes: 0

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

African
type: Population
allele count: 13
allele frequency: 1.258714175058095e-3
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.569548528605373e-5
allele num: 65652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.640686e6

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

FS
type: SiteQuality
SIO_000300: 1.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

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

GenotypeQuality
all individuals: 30388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13984
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.957e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.636601e6

MQ
type: SiteQuality
SIO_000300: 6.009e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.28e0

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 3530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-5
allele num: 65560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.439e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 2.635471e6

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30385
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.515381118351265e-4
allele num: 13198
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 2.620195e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.106e0

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
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variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.615526631588664e-5
allele num: 64998
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.717e0

DP
type: SiteQuality
SIO_000300: 2.602493e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 775
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2160
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76242509693338e-4
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.435544071202986e-3
allele num: 13932
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.609639e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37331
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537042729787888e-5
allele num: 65060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
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: 10226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.813e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

FS
type: SiteQuality
SIO_000300: 7.024e0

VQSLOD
type: SiteQuality
SIO_000300: -1.119e0

MQRankSum
type: SiteQuality
SIO_000300: -1.202e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.625698e6

GenotypeQuality
all individuals: 1612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535815210713847e-5
allele num: 65112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.06e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.627407e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.341e0

GenotypeQuality
all individuals: 5453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
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variant carriers: 0

GenotypeQuality
all individuals: 37603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.076320939334638e-3
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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: 8434
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.372e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 3.504e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.630485e6

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.639788e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 9.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.012622720897616e-5
allele num: 14260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.041e0

DP
type: SiteQuality
SIO_000300: 1.65245e6

QD
type: SiteQuality
SIO_000300: 1.59e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.707e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.469e0

VQSLOD
type: SiteQuality
SIO_000300: -3.466e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42840
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.583371528096068e-5
allele num: 65454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.982e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.669406e6

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5570
bin: 6.75e1
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: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.851192107426693e-5
allele num: 14596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

DP
type: SiteQuality
SIO_000300: 1.672499e6

QD
type: SiteQuality
SIO_000300: 1.653e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.449e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5577
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43653
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.573449600585402e-5
allele num: 65596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 1.994e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.677973e6

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

QD
type: SiteQuality
SIO_000300: 1.651e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 1221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44223
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.60872873360319e-5
allele num: 65714
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.645e0

QD
type: SiteQuality
SIO_000300: 1.559e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.684062e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 2

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

Latino
type: Population
allele count: 163
allele frequency: 1.422090385622055e-2
allele num: 11462
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2241
allele frequency: 3.384991843393149e-2
allele num: 66204
num of homozygotes: 47

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 3.080985915492958e-3
allele num: 15904
num of homozygotes: 1

African
type: Population
allele count: 368
allele frequency: 3.546646106399383e-2
allele num: 10376
num of homozygotes: 7

Other
type: Population
allele count: 22
allele frequency: 2.455357142857143e-2
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 163
allele frequency: 2.482485531526043e-2
allele num: 6566
num of homozygotes: 6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.823256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.232082762059081e-5
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 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: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.690566e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 7.34e0

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.544e0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014863275950436e-5
allele num: 66338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
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: 6572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.244e0

QD
type: SiteQuality
SIO_000300: 1.05e1

DP
type: SiteQuality
SIO_000300: 1.693791e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1147
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
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: 8604
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.697154e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.267e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
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: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

DP
type: SiteQuality
SIO_000300: 1.698564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 2843
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
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: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

DP
type: SiteQuality
SIO_000300: 1.699668e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 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: 1.503442884204829e-5
allele num: 66514
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: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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: 8614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 1.700373e6

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.700553e6

QD
type: SiteQuality
SIO_000300: 1.402e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.153e0

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 2.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

DP
type: SiteQuality
SIO_000300: 1.700428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

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

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48378
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
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: 8616
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: 10398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.701003e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
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: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 1.701003e6

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5770
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510328652614487e-5
allele num: 66514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.846893633391037e-4
allele num: 10398
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: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.031772980839195e-4
allele num: 16492
num of homozygotes: 1

Latino
type: Population
allele count: 6
allele frequency: 5.221932114882506e-4
allele num: 11490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.701537e6

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.67e-2

FS
type: SiteQuality
SIO_000300: 1.739e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
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: 902
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.67e-2

DP
type: SiteQuality
SIO_000300: 1.701537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 8614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.700518e6

VQSLOD
type: SiteQuality
SIO_000300: -4.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.595e0

FS
type: SiteQuality
SIO_000300: 1.4936e1

MQ
type: SiteQuality
SIO_000300: 4.157e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

QD
type: SiteQuality
SIO_000300: 1.45e0

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

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 11492
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.700632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.746e0

MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.102e0

QD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 4.183e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 1.1738e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

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

GenotypeQuality
all individuals: 48442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
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: 10400
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: 11488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.597e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 6.7e0

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.700833e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 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: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

DP
type: SiteQuality
SIO_000300: 1.700748e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.951e0

FS
type: SiteQuality
SIO_000300: 6.054e0

MQ
type: SiteQuality
SIO_000300: 4.298e1

VQSLOD
type: SiteQuality
SIO_000300: -5.211e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5774
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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: 11490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

FS
type: SiteQuality
SIO_000300: 5.934e0

QD
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -5.286e0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.556e0

DP
type: SiteQuality
SIO_000300: 1.700786e6

MQ
type: SiteQuality
SIO_000300: 4.327e1

GenotypeQuality
all individuals: 2836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 1.700777e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.479e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.183e1

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
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: 11488
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
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: 1.700744e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.277e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.768e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.137e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.689e0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 19
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.613695765812859e-4
allele num: 11478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.886e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.700398e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510599909788002e-5
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 6580
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.700181e6

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 234
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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: 16496
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.699718e6

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 1.2573e1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
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: 10394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.138e0

DP
type: SiteQuality
SIO_000300: 1.699488e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

African
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: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.698487e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

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

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

South Asian
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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: 8580
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.698487e6

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44521
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63790
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.794043774668102e-4
allele num: 11148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.523e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 5.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.645126e6

GenotypeQuality
all individuals: 513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1036
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GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607923848726524e-5
allele num: 62192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

MQRankSum
type: SiteQuality
SIO_000300: -1.141e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 1.607089e6

FS
type: SiteQuality
SIO_000300: 6.851e0

QD
type: SiteQuality
SIO_000300: 1.527e1

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.170946441672781e-5
allele num: 10904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.825789016504198e-5
allele num: 62166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.278252134605726e-5
allele num: 15928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

FS
type: SiteQuality
SIO_000300: 1.902e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.606961e6

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 40934
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624853763161316e-5
allele num: 61544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 1.591442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

GenotypeQuality
all individuals: 40934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 1.591442e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.946290033817386e-5
allele num: 10054
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 3.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 2.57e0

VQSLOD
type: SiteQuality
SIO_000300: -3.222e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.539675e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 2807
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GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.287995878413189e-4
allele num: 7764
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 6.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -2.5e0

DP
type: SiteQuality
SIO_000300: 1.530975e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 507
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 30538
bin: 6.25e1
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GenotypeQuality
all individuals: 1781
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56256
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 3.261e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.407408e6

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 262
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GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 664
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variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.657510698218792e-5
allele num: 54682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.343656e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 1.401e0

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 193
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GenotypeQuality
all individuals: 2693
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.976720984369804e-4
allele num: 6014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.680986178558087e-4
allele num: 53540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.994963626189144e-5
allele num: 14296
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.570694087403599e-3
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 93
allele frequency: 1.335055986218777e-2
allele num: 6966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

DP
type: SiteQuality
SIO_000300: 1.298385e6

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 593
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GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.489795154102535e-5
allele num: 53406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.586e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.285403e6

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.731301939058172e-4
allele num: 5776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49782
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.133416e6

FS
type: SiteQuality
SIO_000300: 8.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.611e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 24339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.010836163674592e-4
allele num: 49464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.108886e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 703
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10884
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.8660360085444e-4
allele num: 13108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.324e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

FS
type: SiteQuality
SIO_000300: 1.2875e1

DP
type: SiteQuality
SIO_000300: 1.08899e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
all individuals: 2789
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5263
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.201857220891634e-5
allele num: 47598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.306e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

FS
type: SiteQuality
SIO_000300: 2.127e0

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 1.052585e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

GenotypeQuality
all individuals: 464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.069060898743935e-5
allele num: 44106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.811594202898551e-4
allele num: 5520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.83e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 9.79433e5

VQSLOD
type: SiteQuality
SIO_000300: -1.848e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

FS
type: SiteQuality
SIO_000300: 1.3936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 2779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7204
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.343017806935333e-5
allele num: 42680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

FS
type: SiteQuality
SIO_000300: 4.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 9.60418e5

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: -1.752e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 5.787e1