11-64533344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533344
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533344
    reference: chr 11
allele count: 4
allele frequency: 2.382938162754676e-4
allele num: 16786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1866C>T
  hgvsp: ENST00000377390.3:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1788C>T
  hgvsp: ENST00000433274.2:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-354C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+79C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24466
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly622Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-64533347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533347
    reference: chr 11
allele count: 7
allele frequency: 4.056089929308147e-4
allele num: 17258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+76G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1863G>C
  hgvsp: ENST00000377390.3:c.1863G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-357G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1785G>C
  hgvsp: ENST00000433274.2:c.1785G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24575
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala621Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-64533348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533348
    reference: chr 11
allele count: 1
allele frequency: 5.769008884273682e-5
allele num: 17334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-358C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1862C>T
  hgvsp: ENSP00000366607.3:p.Ala621Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-358C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-358C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+75C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1784C>T
  hgvsp: ENSP00000396793.2:p.Ala595Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-358C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-358C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-358C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23404
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala621Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-64533360-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533360
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533360
    reference: chr 11
allele count: 1
allele frequency: 5.424758598242378e-5
allele num: 18434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-370G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+63G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-370G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1772G>C
  hgvsp: ENSP00000396793.2:p.Gly591Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-370G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-370G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-370G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1850G>C
  hgvsp: ENSP00000366607.3:p.Gly617Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-370G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly617Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

11-64533367-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533367
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533367
    reference: chr 11
allele count: 1
allele frequency: 5.315755900489049e-5
allele num: 18812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-377A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1765A>C
  hgvsp: ENSP00000396793.2:p.Met589Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+56A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-377A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-377A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.*11A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-377A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-377A>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1843A>C
  hgvsp: ENSP00000366607.3:p.Met615Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-377A>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met615Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-64533391-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533391
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533391
    reference: chr 11
allele count: 1
allele frequency: 4.801229114653351e-5
allele num: 20828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-401A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-401A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-401A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+32A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1819A>G
  hgvsp: ENSP00000366607.3:p.Met607Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-401A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1741A>G
  hgvsp: ENSP00000396793.2:p.Met581Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.528A>G
  hgvsp: ENSP00000395927.1:p.His177Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-401A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-401A>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28468
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22872
  bin: 2.25e1
  variant carriers: 1
hgvs: p.His177Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-64533398-C-CGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533398
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533401
    reference: chr 11
allele count: 1
allele frequency: 4.635638791025404e-5
allele num: 21572
alternate allele: CGGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-411_539-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-411_1238-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-411_1958-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-411_*1178-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-411_1583-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+22_1787+24dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1809_1811dupTCC
  hgvsp: ENSP00000366607.3:p.Pro604dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-411_1587-409dupTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1731_1733dupTCC
  hgvsp: ENSP00000396793.2:p.Pro578dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.518_520dupTCC
  hgvsp: ENSP00000395927.1:p.Ser174dup
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18658
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22345
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser174dup
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

11-64533398-CGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533398
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533395
    reference: chr 11
allele count: 4
allele frequency: 1.854255516410161e-4
allele num: 21572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.518_520delTCC
  hgvsp: ENSP00000395927.1:p.Ser174del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-411_1587-409delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1731_1733delTCC
  hgvsp: ENSP00000396793.2:p.Pro580del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-411_1238-409delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1809_1811delTCC
  hgvsp: ENSP00000366607.3:p.Pro606del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-411_539-409delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-411_1958-409delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-411_1583-409delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+22_1787+24delTCC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-411_*1178-409delTCC
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro606del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: CGGA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-64533399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533399
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533399
    reference: chr 11
allele count: 1
allele frequency: 4.531448250860975e-5
allele num: 22068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-409C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-409C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-409C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+24C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-409C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-409C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1733C>T
  hgvsp: ENSP00000396793.2:p.Pro578Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1811C>T
  hgvsp: ENSP00000366607.3:p.Pro604Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.520C>T
  hgvsp: ENST00000413725.1:c.520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-409C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro604Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

11-64533404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533404
    reference: chr 11
allele count: 1
allele frequency: 4.271313856142149e-5
allele num: 23412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1728T>C
  hgvsp: ENST00000433274.2:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.515T>C
  hgvsp: ENSP00000395927.1:p.Ser173Pro
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-414T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+19T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-414T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1806T>C
  hgvsp: ENST00000377390.3:c.1806T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-414T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-414T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-414T>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-414T>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser173Pro
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-64533411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533411
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533411
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 25750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.508C>T
  hgvsp: ENST00000413725.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1721C>T
  hgvsp: ENSP00000396793.2:p.Pro574Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-421C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-421C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-421C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-421C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-421C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1799C>T
  hgvsp: ENSP00000366607.3:p.Pro600Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+12C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-421C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro600Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

11-64533414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533414
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533414
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 27660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+9C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1718C>T
  hgvsp: ENSP00000396793.2:p.Pro573Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1796C>T
  hgvsp: ENSP00000366607.3:p.Pro599Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-424C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.505C>T
  hgvsp: ENST00000413725.1:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31727
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro599Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

11-64533422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533422
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533422
    reference: chr 11
allele count: 1
allele frequency: 3.037298019681691e-5
allele num: 32924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1788G>A
  hgvsp: ENSP00000366607.3:p.Met596Ile
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1787+1G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1710G>A
  hgvsp: ENSP00000396793.2:p.Met570Ile
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-432G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.497G>A
  hgvsp: ENSP00000395927.1:p.Val167Ile
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1787+1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-64533430-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533430
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533430
    reference: chr 11
allele count: 3
allele frequency: 7.958404074702887e-5
allele num: 37696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1702G>C
  hgvsp: ENSP00000396793.2:p.Gly568Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1780G>C
  hgvsp: ENSP00000366607.3:p.Gly594Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-440G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1780G>C
  hgvsp: ENSP00000334414.5:p.Gly594Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.489G>C
  hgvsp: ENSP00000395927.1:p.Arg164Pro
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-440G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-440G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-440G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-440G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-440G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32438
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly594Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-64533430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533430
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533430
    reference: chr 11
allele count: 1
allele frequency: 2.652801358234295e-5
allele num: 37696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-440G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-440G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-440G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-440G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1780G>A
  hgvsp: ENSP00000334414.5:p.Gly594Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1780G>A
  hgvsp: ENSP00000366607.3:p.Gly594Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-440G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1702G>A
  hgvsp: ENSP00000396793.2:p.Gly568Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.489G>A
  hgvsp: ENSP00000395927.1:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-440G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly594Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-64533431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533431
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533431
    reference: chr 11
allele count: 3
allele frequency: 7.768800497203231e-5
allele num: 38616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.488C>T
  hgvsp: ENSP00000395927.1:p.Arg164Trp
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1779C>T
  hgvsp: ENST00000334944.5:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-441C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1779C>T
  hgvsp: ENST00000377390.3:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-441C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-441C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-441C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-441C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1701C>T
  hgvsp: ENST00000433274.2:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-441C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32106
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg164Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64533432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533432
    reference: chr 11
allele count: 1
allele frequency: 2.524105204704932e-5
allele num: 39618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1778C>T
  hgvsp: ENSP00000334414.5:p.Ala593Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-442C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1700C>T
  hgvsp: ENSP00000396793.2:p.Ala567Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-442C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-442C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-442C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1778C>T
  hgvsp: ENSP00000366607.3:p.Ala593Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.487C>T
  hgvsp: ENST00000413725.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-442C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-442C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala593Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64533433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533433
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533433
    reference: chr 11
allele count: 3
allele frequency: 7.578053955744165e-5
allele num: 39588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-443G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-443G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-443G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1777G>A
  hgvsp: ENSP00000334414.5:p.Ala593Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1699G>A
  hgvsp: ENSP00000396793.2:p.Ala567Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-443G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.486G>A
  hgvsp: ENSP00000395927.1:p.Arg163His
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1777G>A
  hgvsp: ENSP00000366607.3:p.Ala593Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-443G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-443G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala593Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-64533434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533434
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533434
    reference: chr 11
allele count: 4
allele frequency: 9.405568096313017e-5
allele num: 42528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.485C>T
  hgvsp: ENSP00000395927.1:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-444C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1776C>T
  hgvsp: ENST00000334944.5:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1776C>T
  hgvsp: ENST00000377390.3:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-444C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-444C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-444C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1698C>T
  hgvsp: ENST00000433274.2:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-444C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-444C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg163Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-64533443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533443
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533443
    reference: chr 11
allele count: 57
allele frequency: 1.179879942040985e-3
allele num: 48310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-453G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1767G>A
  hgvsp: ENST00000334944.5:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-453G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-453G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1767G>A
  hgvsp: ENST00000377390.3:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-453G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1689G>A
  hgvsp: ENST00000433274.2:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.476G>A
  hgvsp: ENSP00000395927.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-453G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-453G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28487
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Ala160Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

11-64533444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533444
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533444
    reference: chr 11
allele count: 6
allele frequency: 1.155846657676748e-4
allele num: 51910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-454C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.475C>T
  hgvsp: ENST00000413725.1:c.475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-454C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-454C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1766C>T
  hgvsp: ENSP00000334414.5:p.Pro589Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-454C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1688C>T
  hgvsp: ENSP00000396793.2:p.Pro563Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-454C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1766C>T
  hgvsp: ENSP00000366607.3:p.Pro589Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-454C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11436
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro589Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

11-64533446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533446
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533446
    reference: chr 11
allele count: 3
allele frequency: 5.721478430026319e-5
allele num: 52434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1686A>G
  hgvsp: ENST00000433274.2:c.1686A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.473A>G
  hgvsp: ENSP00000395927.1:p.Thr159Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1764A>G
  hgvsp: ENST00000334944.5:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-456A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1764A>G
  hgvsp: ENST00000377390.3:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr159Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64533446-TGGAGGCGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533446
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533437
    reference: chr 11
allele count: 7
allele frequency: 1.335011633672808e-4
allele num: 52434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsp: ENSP00000334414.5:p.Pro588_Pro590del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.464_472delGCCGCCTCC
  hgvsp: ENSP00000395927.1:p.Ala156_Ser158del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsp: ENSP00000366607.3:p.Pro588_Pro590del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsp: ENSP00000396793.2:p.Pro562_Pro564del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro562_Pro564del
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TGGAGGCGGC
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-64533452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533452
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533452
    reference: chr 11
allele count: 1
allele frequency: 1.733883552380622e-5
allele num: 57674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-462G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1758G>A
  hgvsp: ENST00000334944.5:c.1758G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1758G>A
  hgvsp: ENST00000377390.3:c.1758G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.467G>A
  hgvsp: ENSP00000395927.1:p.Ala157Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-462G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-462G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-462G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-462G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1680G>A
  hgvsp: ENST00000433274.2:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-462G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala157Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

11-64533453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533453
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533453
    reference: chr 11
allele count: 2
allele frequency: 3.269149040504757e-5
allele num: 61178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-463C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.466C>T
  hgvsp: ENST00000413725.1:c.466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-463C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1679C>T
  hgvsp: ENSP00000396793.2:p.Pro560Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-463C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-463C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1757C>T
  hgvsp: ENSP00000366607.3:p.Pro586Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1757C>T
  hgvsp: ENSP00000334414.5:p.Pro586Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-463C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-463C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro586Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-64533456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533456
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533456
    reference: chr 11
allele count: 6
allele frequency: 8.99415380002998e-5
allele num: 66710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1754C>T
  hgvsp: ENSP00000334414.5:p.Pro585Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1754C>T
  hgvsp: ENSP00000366607.3:p.Pro585Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-466C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1676C>T
  hgvsp: ENSP00000396793.2:p.Pro559Leu
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-466C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-466C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-466C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.463C>T
  hgvsp: ENST00000413725.1:c.463C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-466C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-466C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Pro585Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-64533476-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533476
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533476
    reference: chr 11
allele count: 3
allele frequency: 3.530325496010732e-5
allele num: 84978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1734G>T
  hgvsp: ENST00000377390.3:c.1734G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.443G>T
  hgvsp: ENSP00000395927.1:p.Ala149Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-486G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1734G>T
  hgvsp: ENST00000334944.5:c.1734G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1656G>T
  hgvsp: ENST00000433274.2:c.1656G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala149Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-64533476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533476
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533476
    reference: chr 11
allele count: 1
allele frequency: 1.176775165336911e-5
allele num: 84978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1734G>A
  hgvsp: ENST00000377390.3:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1734G>A
  hgvsp: ENST00000334944.5:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.443G>A
  hgvsp: ENSP00000395927.1:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-486G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1656G>A
  hgvsp: ENST00000433274.2:c.1656G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala149Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

11-64533485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533485
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533485
    reference: chr 11
allele count: 1
allele frequency: 1.055208509201418e-5
allele num: 94768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-495G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1647G>A
  hgvsp: ENST00000433274.2:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1725G>A
  hgvsp: ENST00000377390.3:c.1725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-495G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.434G>A
  hgvsp: ENSP00000395927.1:p.Ala146Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-495G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-495G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-495G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1725G>A
  hgvsp: ENST00000334944.5:c.1725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-495G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala146Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-64533487-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533487
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533487
    reference: chr 11
allele count: 2
allele frequency: 2.035043448177619e-5
allele num: 98278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-497C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-497C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1645C>G
  hgvsp: ENSP00000396793.2:p.Pro549Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.432C>G
  hgvsp: ENSP00000395927.1:p.Ala145Gly
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-497C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1723C>G
  hgvsp: ENSP00000334414.5:p.Pro575Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-497C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-497C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1723C>G
  hgvsp: ENSP00000366607.3:p.Pro575Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-497C>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro575Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

11-64533497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
allele count: 10
allele frequency: 9.53980004579104e-5
allele num: 104824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1713C>T
  hgvsp: ENST00000334944.5:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1635C>T
  hgvsp: ENST00000433274.2:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-507C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1713C>T
  hgvsp: ENST00000377390.3:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-507C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.871C>T
  hgvsp: ENSP00000419062.1:p.Arg291Trp
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.422C>T
  hgvsp: ENSP00000395927.1:p.Arg142Trp
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-507C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-507C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-507C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-507C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg142Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-64533497-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
allele count: 2
allele frequency: 1.907960009158208e-5
allele num: 104824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1713C>G
  hgvsp: ENST00000377390.3:c.1713C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1635C>G
  hgvsp: ENST00000433274.2:c.1635C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-507C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.422C>G
  hgvsp: ENSP00000395927.1:p.Arg142Gly
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1713C>G
  hgvsp: ENST00000334944.5:c.1713C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-507C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.871C>G
  hgvsp: ENSP00000419062.1:p.Arg291Gly
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-507C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-507C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-507C>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-507C>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg142Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

11-64533497-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533497
    reference: chr 11
allele count: 1
allele frequency: 9.53980004579104e-6
allele num: 104824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-507C>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1635C>A
  hgvsp: ENST00000433274.2:c.1635C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.422C>A
  hgvsp: ENST00000413725.1:c.422C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1713C>A
  hgvsp: ENST00000377390.3:c.1713C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1713C>A
  hgvsp: ENST00000334944.5:c.1713C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-507C>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-507C>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-507C>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-507C>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.871C>A
  hgvsp: ENST00000486867.1:c.871C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-507C>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg142Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

11-64533500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533500
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533500
    reference: chr 11
allele count: 2
allele frequency: 1.852949896234806e-5
allele num: 107936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-510C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.868C>T
  hgvsp: ENSP00000419062.1:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.419C>T
  hgvsp: ENSP00000395927.1:p.Pro141Ser
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-510C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-510C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1710C>T
  hgvsp: ENST00000334944.5:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-510C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1632C>T
  hgvsp: ENST00000433274.2:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-510C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1710C>T
  hgvsp: ENST00000377390.3:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-510C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29760
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro141Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

11-64533517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533517
    reference: chr 11
allele count: 1
allele frequency: 8.795848359574281e-6
allele num: 113690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1693A>G
  hgvsp: ENSP00000366607.3:p.Thr565Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-527A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-527A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.402A>G
  hgvsp: ENSP00000395927.1:p.His135Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1693A>G
  hgvsp: ENSP00000334414.5:p.Thr565Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-527A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1615A>G
  hgvsp: ENSP00000396793.2:p.Thr539Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-527A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-527A>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.851A>G
  hgvsp: ENSP00000419062.1:p.His284Arg
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-527A>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His135Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

11-64533556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533556
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533556
    reference: chr 11
allele count: 1
allele frequency: 8.844548220476899e-6
allele num: 113064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1654G>A
  hgvsp: ENSP00000334414.5:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1654G>A
  hgvsp: ENSP00000366607.3:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.363G>A
  hgvsp: ENSP00000395927.1:p.Arg122His
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.812G>A
  hgvsp: ENSP00000419062.1:p.Arg271His
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-566G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1576G>A
  hgvsp: ENSP00000396793.2:p.Ala526Thr
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg122His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-64533562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533562
    reference: chr 11
allele count: 13
allele frequency: 1.137975104606173e-4
allele num: 114238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-572G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.806G>C
  hgvsp: ENSP00000419062.1:p.Gly269Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1648G>C
  hgvsp: ENSP00000366607.3:p.Ala550Pro
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1570G>C
  hgvsp: ENSP00000396793.2:p.Ala524Pro
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-572G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1648G>C
  hgvsp: ENSP00000334414.5:p.Ala550Pro
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.357G>C
  hgvsp: ENSP00000395927.1:p.Gly120Ala
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-572G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-572G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-572G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-572G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18542
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly120Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-64533564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533564
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533564
    reference: chr 11
allele count: 5
allele frequency: 4.290666941269351e-5
allele num: 116532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-574C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-574C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1568C>T
  hgvsp: ENSP00000396793.2:p.Ala523Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-574C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1646C>T
  hgvsp: ENSP00000334414.5:p.Ala549Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.804C>T
  hgvsp: ENST00000486867.1:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-574C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.355C>T
  hgvsp: ENST00000413725.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1646C>T
  hgvsp: ENSP00000366607.3:p.Ala549Val
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-574C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-574C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala523Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-64533565-CCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533562
    reference: chr 11
allele count: 2
allele frequency: 1.713737318343844e-5
allele num: 116704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1564_1566delCAG
  hgvsp: ENSP00000396793.2:p.Gln522del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1642_1644delCAG
  hgvsp: ENSP00000366607.3:p.Gln548del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.351_353delCAG
  hgvsp: ENSP00000395927.1:p.Ala118del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1642_1644delCAG
  hgvsp: ENSP00000334414.5:p.Gln548del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-578_1583-576delCAG
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-578_1587-576delCAG
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-578_539-576delCAG
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-578_*1178-576delCAG
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.800_802delCAG
  hgvsp: ENSP00000419062.1:p.Ala267del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-578_1238-576delCAG
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-578_1958-576delCAG
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala118del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: CCTG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

11-64533572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533572
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533572
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 116930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-582G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-582G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.347G>A
  hgvsp: ENSP00000395927.1:p.Ala117Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1638G>A
  hgvsp: ENST00000334944.5:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.796G>A
  hgvsp: ENSP00000419062.1:p.Ala266Thr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-582G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1638G>A
  hgvsp: ENST00000377390.3:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-582G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1560G>A
  hgvsp: ENST00000433274.2:c.1560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-582G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-582G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala117Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

11-64533591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533591
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533591
    reference: chr 11
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1541C>T
  hgvsp: ENSP00000396793.2:p.Ser514Phe
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-601C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-601C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1619C>T
  hgvsp: ENSP00000366607.3:p.Ser540Phe
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1619C>T
  hgvsp: ENSP00000334414.5:p.Ser540Phe
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.328C>T
  hgvsp: ENST00000413725.1:c.328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-601C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-601C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.777C>T
  hgvsp: ENST00000486867.1:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-601C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-601C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser514Phe
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

11-64533597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533597
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533597
    reference: chr 11
allele count: 1
allele frequency: 8.504558443325623e-6
allele num: 117584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-607C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-607C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.771C>T
  hgvsp: ENST00000486867.1:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1535C>T
  hgvsp: ENSP00000396793.2:p.Thr512Ile
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-607C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1613C>T
  hgvsp: ENSP00000334414.5:p.Thr538Ile
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-607C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-607C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1613C>T
  hgvsp: ENSP00000366607.3:p.Thr538Ile
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.322C>T
  hgvsp: ENST00000413725.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-607C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr512Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-64533599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533599
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533599
    reference: chr 11
allele count: 1
allele frequency: 8.503690601721147e-6
allele num: 117596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.769C>T
  hgvsp: ENSP00000419062.1:p.His257Tyr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-609C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1611C>T
  hgvsp: ENST00000377390.3:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-609C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1611C>T
  hgvsp: ENST00000334944.5:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-609C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1533C>T
  hgvsp: ENST00000433274.2:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-609C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.320C>T
  hgvsp: ENSP00000395927.1:p.His108Tyr
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-609C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-609C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His108Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-64533605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533605
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533605
    reference: chr 11
allele count: 3
allele frequency: 2.551714752313555e-5
allele num: 117568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1605C>T
  hgvsp: ENST00000377390.3:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1605C>T
  hgvsp: ENST00000334944.5:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.314C>T
  hgvsp: ENSP00000395927.1:p.Arg106Cys
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-615C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.763C>T
  hgvsp: ENSP00000419062.1:p.Arg255Cys
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1527C>T
  hgvsp: ENST00000433274.2:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg106Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

11-64533606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533606
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533606
    reference: chr 11
allele count: 1
allele frequency: 8.503545978673106e-6
allele num: 117598
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-616G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.762G>A
  hgvsp: ENST00000486867.1:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1604G>A
  hgvsp: ENSP00000334414.5:p.Ser535Asn
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-616G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1604G>A
  hgvsp: ENSP00000366607.3:p.Ser535Asn
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-616G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-616G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1526G>A
  hgvsp: ENSP00000396793.2:p.Ser509Asn
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.313G>A
  hgvsp: ENST00000413725.1:c.313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-616G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-616G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser509Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

11-64533608-C-CGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533611
    reference: chr 11
allele count: 1
allele frequency: 8.506005239699228e-6
allele num: 117564
alternate allele: CGTG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.757_759dupCAC
  hgvsp: ENSP00000419062.1:p.His253dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-621_1238-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.308_310dupCAC
  hgvsp: ENSP00000395927.1:p.His104dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-621_*1178-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-621_539-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-621_1583-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-621_1958-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1521_1523dupCAC
  hgvsp: ENSP00000396793.2:p.Thr508dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1599_1601dupCAC
  hgvsp: ENSP00000334414.5:p.Thr534dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1599_1601dupCAC
  hgvsp: ENSP00000366607.3:p.Thr534dup
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-621_1587-619dupCAC
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr534dup
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-64533608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533608
    reference: chr 11
allele count: 1
allele frequency: 8.506005239699228e-6
allele num: 117564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.760G>A
  hgvsp: ENSP00000419062.1:p.Glu254Lys
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1602G>A
  hgvsp: ENST00000377390.3:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.311G>A
  hgvsp: ENSP00000395927.1:p.Glu105Lys
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1524G>A
  hgvsp: ENST00000433274.2:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-618G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1602G>A
  hgvsp: ENST00000334944.5:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu254Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

11-64533609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533609
    reference: chr 11
allele count: 2
allele frequency: 1.701085292416562e-5
allele num: 117572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.759C>T
  hgvsp: ENST00000486867.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1601C>T
  hgvsp: ENSP00000334414.5:p.Thr534Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-619C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-619C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-619C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-619C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1523C>T
  hgvsp: ENSP00000396793.2:p.Thr508Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1601C>T
  hgvsp: ENSP00000366607.3:p.Thr534Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.310C>T
  hgvsp: ENST00000413725.1:c.310C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-619C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-619C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr508Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-64533617-AGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533617
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533614
    reference: chr 11
allele count: 1
allele frequency: 8.516291665956975e-6
allele num: 117422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.299_301delGAC
  hgvsp: ENSP00000395927.1:p.Asp101del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.748_750delGAC
  hgvsp: ENSP00000419062.1:p.Asp250del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1512_1514delGAC
  hgvsp: ENSP00000396793.2:p.Thr508del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-630_1958-628delGAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-630_1583-628delGAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-630_1587-628delGAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1590_1592delGAC
  hgvsp: ENSP00000366607.3:p.Thr534del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-630_*1178-628delGAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1590_1592delGAC
  hgvsp: ENSP00000334414.5:p.Thr534del
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-630_1238-628delGAC
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-630_539-628delGAC
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp101del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AGTC
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64533624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533624
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533624
    reference: chr 11
allele count: 1
allele frequency: 8.54496359845507e-6
allele num: 117028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.744C>T
  hgvsp: ENST00000486867.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1586C>T
  hgvsp: ENSP00000334414.5:p.Thr529Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-634C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1508C>T
  hgvsp: ENSP00000396793.2:p.Thr503Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-634C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.295C>T
  hgvsp: ENST00000413725.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-634C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1586C>T
  hgvsp: ENSP00000366607.3:p.Thr529Met
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-634C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-634C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-634C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr503Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

11-64533647-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533647
    reference: chr 11
allele count: 1
allele frequency: 8.745539774714895e-6
allele num: 114344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-20G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-657G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-20G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-657G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-20G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-657G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-20G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-657G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-657G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-20G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-657G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-64533655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533655
    reference: chr 11
allele count: 2
allele frequency: 1.774433955568174e-5
allele num: 112712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-28G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-28G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-28G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-665G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-28G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-28G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

11-64533657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533657
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533657
    reference: chr 11
allele count: 2
allele frequency: 1.786001321640978e-5
allele num: 111982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-667G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-30G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-30G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-30G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-667G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-667G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-667G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-667G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-30G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-30G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-667G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-64533658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533658
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533658
    reference: chr 11
allele count: 35
allele frequency: 3.12343828085957e-4
allele num: 112056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-31C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-31C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-668C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-668C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-668C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-668C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-668C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-31C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-31C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-31C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-668C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19231
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-64533659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533659
    reference: chr 11
allele count: 1
allele frequency: 8.956881572111853e-6
allele num: 111646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-32G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-32G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-669G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-32G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-32G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-32G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-669G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-669G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-669G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-669G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-669G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-64533661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533661
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533661
    reference: chr 11
allele count: 3
allele frequency: 2.700075602116859e-5
allele num: 111108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-671G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-34G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-671G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-671G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-671G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-34G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-34G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-671G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-34G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-34G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-671G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64533672-CGCGGCTGTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533672
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533662
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 107686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9994
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: CGCGGCTGTCT
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-64533673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533673
    reference: chr 11
allele count: 1
allele frequency: 9.777082518576456e-6
allele num: 102280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-46C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-46C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-46C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-683C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-46C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-46C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6960
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-64533674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533674
    reference: chr 11
allele count: 3
allele frequency: 2.925573412388828e-5
allele num: 102544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-47G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-47G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-47G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-47G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-684G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-47G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-64533675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64533675
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64533675
    reference: chr 11
allele count: 2
allele frequency: 1.944239219193529e-5
allele num: 102868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.741-48C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.539-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1583-48C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1958-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1238-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1178-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1583-48C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1505-48C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1583-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1587-685C>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.292-48C>T
  variant of: http://identifiers.org/hgnc/12950
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-64534323-CCCCACCCCCATCCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534308
    reference: chr 11
allele count: 4
allele frequency: 5.516632647432007e-5
allele num: 72508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CCCCACCCCCATCCCA
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-64534333-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534333
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534333
    reference: chr 11
allele count: 78
allele frequency: 1.13988425790612e-3
allele num: 68428
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.355T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+39T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+39T>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-64534338-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534338
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534338
    reference: chr 11
allele count: 51
allele frequency: 6.516239490966703e-4
allele num: 78266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.350T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+34T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+34T>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-64534339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534339
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534339
    reference: chr 11
allele count: 2
allele frequency: 2.331328390917145e-5
allele num: 85788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.349G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+33G>A
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+33G>A
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/11-64534342-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534342
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534342
    reference: chr 11
allele count: 23
allele frequency: 2.599046263023482e-4
allele num: 88494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.346T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+30T>G
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+30T>G
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

11-64534346-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534346
    reference: chr 11
allele count: 2
allele frequency: 2.092312842616228e-5
allele num: 95588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.342G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+26G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+26G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/11-64534347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534347
    reference: chr 11
allele count: 1
allele frequency: 1.037408967363114e-5
allele num: 96394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.341G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+25G>T
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+25G>T
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-64534347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64534347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64534347
    reference: chr 11
allele count: 1
allele frequency: 1.037408967363114e-5
allele num: 96394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000227503
  ensembl transcript: ENST00000227503
  gene symbol: SF1
  hgvsc: ENST00000227503.9:c.1582+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000391198
  ensembl transcript: ENST00000443908
  gene symbol: SF1
  hgvsc: ENST00000443908.1:c.538+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000413084
  ensembl transcript: ENST00000422298
  gene symbol: SF1
  hgvsc: ENST00000422298.2:c.1237+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000407962
  ensembl transcript: ENST00000448404
  gene symbol: SF1
  hgvsc: ENST00000448404.1:c.*1177+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366607
  ensembl transcript: ENST00000377390
  gene symbol: SF1
  hgvsc: ENST00000377390.3:c.1582+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000419062
  ensembl transcript: ENST00000486867
  gene symbol: SF1
  hgvsc: ENST00000486867.1:c.740+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000396793
  ensembl transcript: ENST00000433274
  gene symbol: SF1
  hgvsc: ENST00000433274.2:c.1504+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168066
  ensembl transcript: ENST00000477596
  gene symbol: SF1
  hgvsc: ENST00000477596.1:n.341G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366611
  ensembl transcript: ENST00000377394
  gene symbol: SF1
  hgvsc: ENST00000377394.3:c.1586+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000366604
  ensembl transcript: ENST00000377387
  gene symbol: SF1
  hgvsc: ENST00000377387.1:c.1957+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000395927
  ensembl transcript: ENST00000413725
  gene symbol: SF1
  hgvsc: ENST00000413725.1:c.291+25G>C
  variant of: http://identifiers.org/hgnc/12950
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168066
  ensembl protein: ENSP00000334414
  ensembl transcript: ENST00000334944
  gene symbol: SF1
  hgvsc: ENST00000334944.5:c.1582+25G>C
  variant of: http://identifiers.org/hgnc/12950
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C

GenotypeQuality
all individuals: 1202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2468
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20850
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23902
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.063291139240507e-4
allele num: 7900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.304e0

VQSLOD
type: SiteQuality
SIO_000300: -1.602e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.88e-2

FS
type: SiteQuality
SIO_000300: 1.004e0

DP
type: SiteQuality
SIO_000300: 4.09075e5

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 2.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23500
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1895
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.813900780659784e-4
allele num: 7942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 4.13135e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
all individuals: 1949
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20230
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-4
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.14338e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.9e0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22542
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.399776035834267e-4
allele num: 7144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 4.27001e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 1239
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20887
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.236093943139679e-4
allele num: 8090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 5.876e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.32005e5

QD
type: SiteQuality
SIO_000300: 1.681e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.152870647913304e-4
allele num: 8674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.812e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.435e0

DP
type: SiteQuality
SIO_000300: 4.59818e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 3181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5738
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.208313194780087e-4
allele num: 8276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.45e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.732e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 1.76e1

DP
type: SiteQuality
SIO_000300: 4.69584e5

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5738
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.186748305270064e-4
allele num: 9146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.416626389560174e-4
allele num: 8276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.45e-2

DP
type: SiteQuality
SIO_000300: 4.69584e5

MQ
type: SiteQuality
SIO_000300: 5.732e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.76e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17633
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.050420168067227e-4
allele num: 9520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 4.73813e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.339e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24100
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

FS
type: SiteQuality
SIO_000300: 1.166e0

DP
type: SiteQuality
SIO_000300: 4.85113e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.918e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

GenotypeQuality
all individuals: 158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14749
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12044
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 7.35e0

DP
type: SiteQuality
SIO_000300: 5.05876e5

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12944
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28802
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1562
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13302
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 5.31492e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1445
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.097453906935909e-4
allele num: 9112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.162e0

DP
type: SiteQuality
SIO_000300: 5.83277e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

QD
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7639
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7945
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19828
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.420454545454545e-3
allele num: 2112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.172e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 6.23347e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7639
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.684598378776713e-4
allele num: 2714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.189e0

DP
type: SiteQuality
SIO_000300: 6.23347e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 30582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7412
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 1
allele frequency: 4.549590536851683e-4
allele num: 2198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.881859011911736e-5
allele num: 20484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.27361e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 1187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.74743638435245e-5
allele num: 21064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.31656e5

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

MQ
type: SiteQuality
SIO_000300: 5.833e1

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: -1.664e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.365e0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 4.266211604095563e-4
allele num: 2344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.48676596148373e-5
allele num: 21082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.39689e5

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 1.956e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 7.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6671
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.377133852753217e-5
allele num: 22846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.01450443190975e-4
allele num: 9928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.73134328358209e-4
allele num: 2680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

DP
type: SiteQuality
SIO_000300: 6.57473e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1645
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1713
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9786
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28615
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 736
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 9.75e1
variant carriers: 46

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 1.670951156812339e-2
allele num: 3112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.505457282649605e-4
allele num: 26570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 7.1641e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

FS
type: SiteQuality
SIO_000300: 1.697e0

GenotypeQuality
all individuals: 706
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.500665126374011e-5
allele num: 28566
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.844535359438924e-4
allele num: 3422
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.693965517241379e-4
allele num: 3712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.218289085545723e-5
allele num: 10848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.985074626865672e-4
allele num: 3350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 7.31613e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 3.942e0

QD
type: SiteQuality
SIO_000300: 1.247e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

GenotypeQuality
all individuals: 2662
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 8.746355685131195e-4
allele num: 3430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 6.73e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

DP
type: SiteQuality
SIO_000300: 7.47115e5

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

GenotypeQuality
all individuals: 1155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.717976910390324e-4
allele num: 29104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.858736059479554e-4
allele num: 10760
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.47115e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 6.73e0

GenotypeQuality
all individuals: 1062
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.662406815761449e-4
allele num: 3756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 2.522e0

DP
type: SiteQuality
SIO_000300: 7.86828e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 8.41e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 775
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.893099180859214e-5
allele num: 33938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.932e0

DP
type: SiteQuality
SIO_000300: 8.05818e5

QD
type: SiteQuality
SIO_000300: 3.058e1

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.294630564479119e-4
allele num: 4358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.352447930754666e-4
allele num: 36970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.59344e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

GenotypeQuality
all individuals: 2267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.441638752898738e-5
allele num: 46572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

FS
type: SiteQuality
SIO_000300: 1.459e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.068036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 13214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.147212917632913e-5
allele num: 46572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.068036e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 1.459e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 1081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929533438814495e-5
allele num: 51826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.158814e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 340
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.699055330634278e-4
allele num: 7410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.34e0

QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 1.187519e6

VQSLOD
type: SiteQuality
SIO_000300: -1.683e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 10

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.80793710220891e-4
allele num: 10684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.326711375427053e-5
allele num: 15806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.013852358407856e-5
allele num: 57030
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.358695652173913e-3
allele num: 736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.289762e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753463089601964e-5
allele num: 57030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 1.289762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 39546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753463089601964e-5
allele num: 57030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.289762e6

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.122e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.240694789081886e-4
allele num: 8060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69848495142333e-5
allele num: 58876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 1.025e0

DP
type: SiteQuality
SIO_000300: 1.313597e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62458
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.200192030724916e-4
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.388186e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.83e1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

FS
type: SiteQuality
SIO_000300: 3.152e0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46264
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.610617188506636e-5
allele num: 62088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e0

DP
type: SiteQuality
SIO_000300: 1.471389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.871e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.382e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 368
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1032
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 964
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47145
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.910767173019968e-4
allele num: 62802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 3.6131e1

VQSLOD
type: SiteQuality
SIO_000300: -7.344e0

QD
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.741e1

DP
type: SiteQuality
SIO_000300: 1.429249e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.006e0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.786706534604123e-5
allele num: 64212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.422248e6

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 4.02e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
all individuals: 794
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.101321585903084e-4
allele num: 9080
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
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: 1.55448468832582e-5
allele num: 64330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 2.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.874e1

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 1.423847e6

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64480
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.705e1

FS
type: SiteQuality
SIO_000300: 9.699999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.875e-1

DP
type: SiteQuality
SIO_000300: 1.431196e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.627074520013016e-4
allele num: 6146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.298e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.648e0

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

DP
type: SiteQuality
SIO_000300: 1.440686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.803e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.441403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49699
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.896e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -1.169e0

DP
type: SiteQuality
SIO_000300: 1.441182e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.766e0

QD
type: SiteQuality
SIO_000300: 6.72e0

GenotypeQuality
all individuals: 1072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49538
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.620360388110273e-5
allele num: 64930
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.173e-1

DP
type: SiteQuality
SIO_000300: 1.440217e6

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.086e0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
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: 6076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539693293096015e-5
allele num: 64948
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.440402e6

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 8.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.104e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.103e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

FS
type: SiteQuality
SIO_000300: 3.833e0

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.441035e6

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.802e1

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.802e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.441035e6

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079671091127467e-5
allele num: 64942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 1.440314e6

FS
type: SiteQuality
SIO_000300: 7.054e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.53e1

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 9.577999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 1.435658e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
all individuals: 525
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.068604402650139e-4
allele num: 9358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.816e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 1.427284e6

FS
type: SiteQuality
SIO_000300: 4.549e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576491360827343e-5
allele num: 63432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.481e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.609e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

DP
type: SiteQuality
SIO_000300: 1.319592e6

GenotypeQuality
all individuals: 2569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9808
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.274534794799898e-4
allele num: 15692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

DP
type: SiteQuality
SIO_000300: 1.209207e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.136e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 26568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.403688524590164e-5
allele num: 15616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608803372051868e-5
allele num: 62158
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.183023e6

FS
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 5523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3111
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.835535976505139e-4
allele num: 5448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.307172724348665e-4
allele num: 62180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.397134083930399e-5
allele num: 15632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.577e0

DP
type: SiteQuality
SIO_000300: 1.180678e6

GenotypeQuality
all individuals: 3412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5881
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612955256621181e-5
allele num: 61998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.167558e6

GenotypeQuality
all individuals: 420
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10494
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 386
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620430386310604e-5
allele num: 61712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.143641354071363e-4
allele num: 8744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.235788433020267e-4
allele num: 8092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.408e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.92e-2

DP
type: SiteQuality
SIO_000300: 1.151205e6

QD
type: SiteQuality
SIO_000300: 1.333e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2726
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6841
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.080304e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 4861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.964758322886195e-5
allele num: 14358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

DP
type: SiteQuality
SIO_000300: 1.069937e6

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

GenotypeQuality
all individuals: 2010
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8004
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3545
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.749965000699986e-5
allele num: 57144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.711e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.068707e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.567e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

GenotypeQuality
all individuals: 549
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5452
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4840
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.24595066035385e-4
allele num: 8026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4816
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743496757096032e-5
allele num: 57356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.067631e6

QD
type: SiteQuality
SIO_000300: 1.014e1

GenotypeQuality
all individuals: 808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5041
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.62000462000462e-5
allele num: 43290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3224
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.481920569057498e-4
allele num: 6748
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.943e0

MQRankSum
type: SiteQuality
SIO_000300: -4.831e0

MQ
type: SiteQuality
SIO_000300: 4.69e1

FS
type: SiteQuality
SIO_000300: 1.752e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

DP
type: SiteQuality
SIO_000300: 8.16104e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

GenotypeDepth
all individuals: 6468
bin: 2.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1110
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 11361
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 10046
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 584
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 5351
bin: 7.5e0
variant carriers: 21

GenotypeQuality
all individuals: 4580
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2857
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5096
bin: 2.5e0
variant carriers: 11

GenotypeQuality
all individuals: 1044
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1382
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1157
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2698
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 3701
bin: 2.75e1
variant carriers: 11

GenotypeQuality
all individuals: 996
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 964
bin: 4.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.913752913752914e-4
allele num: 6864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.65764447695684e-4
allele num: 5468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.97441998810232e-4
allele num: 3362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.848428835489834e-4
allele num: 5410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.885804085908853e-3
allele num: 38180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 4.498e0

VQSLOD
type: SiteQuality
SIO_000300: -2.791e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 9.53148e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 2588
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3168
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 4859
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 753
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 660
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16327
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 772
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 717
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 848
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1410
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1157
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2582
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 9914
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 770
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1594
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 998
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1565
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 1.011054192504718e-3
allele num: 44508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.581277672359266e-4
allele num: 6324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.518891687657431e-4
allele num: 3970
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.74649821477616e-4
allele num: 7282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.28515111695138e-4
allele num: 6088
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 1.11619e6

MQ
type: SiteQuality
SIO_000300: 5.827e1

MQRankSum
type: SiteQuality
SIO_000300: -1.195e0

FS
type: SiteQuality
SIO_000300: 2.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeDepth
all individuals: 2270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.346257404415724e-4
allele num: 7428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.013171225937183e-4
allele num: 9870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.538e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 3.633e0

VQSLOD
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

QD
type: SiteQuality
SIO_000300: 1.79e1

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 1.162142e6

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 725
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6801
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 452
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 700
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20987
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6644
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1567
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.488538255433165e-4
allele num: 6718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.498814290712592e-4
allele num: 51446
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.605523710265763e-4
allele num: 7676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.374003847210772e-4
allele num: 7278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.202643171806167e-4
allele num: 4540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.247798e6

MQ
type: SiteQuality
SIO_000300: 5.783e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 2.145e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.511e0

MQRankSum
type: SiteQuality
SIO_000300: -1.639e0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.236399604352127e-4
allele num: 8088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.792178931144485e-5
allele num: 55798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 5.765e0

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.272e0

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
type: SiteQuality
SIO_000300: 1.330207e6

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3788
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24791
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.779042874933286e-5
allele num: 56210
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

DP
type: SiteQuality
SIO_000300: 1.340962e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeDepth
all individuals: 10867
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.577287066246057e-3
allele num: 634
num of homozygotes: 0