14-95053920-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053920
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053920
    reference: chr 14
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.221T>C
  hgvsp: ENSP00000450484.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.221T>C
  hgvsp: ENSP00000451650.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.221T>C
  hgvsp: ENSP00000451126.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.221T>C
  hgvsp: ENSP00000450837.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.221T>C
  hgvsp: ENSP00000450745.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.221T>C
  hgvsp: ENSP00000452469.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.221T>C
  hgvsp: ENSP00000451610.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.338T>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.221T>C
  hgvsp: ENSP00000450485.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.221T>C
  hgvsp: ENSP00000333203.7:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.221T>C
  hgvsp: ENSP00000451215.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.221T>C
  hgvsp: ENSP00000451697.1:p.Met74Thr
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met74Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

14-95053922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053922
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053922
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.223A>G
  hgvsp: ENSP00000333203.7:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.223A>G
  hgvsp: ENSP00000451126.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.223A>G
  hgvsp: ENSP00000451697.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.223A>G
  hgvsp: ENSP00000450485.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.340A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.223A>G
  hgvsp: ENSP00000451610.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.223A>G
  hgvsp: ENSP00000451650.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.223A>G
  hgvsp: ENSP00000452469.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.223A>G
  hgvsp: ENSP00000450837.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.223A>G
  hgvsp: ENSP00000450745.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.223A>G
  hgvsp: ENSP00000450484.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.223A>G
  hgvsp: ENSP00000451215.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser75Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

14-95053923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053923
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053923
    reference: chr 14
allele count: 6
allele frequency: 4.977600796416127e-5
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.224G>A
  hgvsp: ENSP00000450485.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.224G>A
  hgvsp: ENSP00000451650.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.224G>A
  hgvsp: ENSP00000451610.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.224G>A
  hgvsp: ENSP00000450837.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.224G>A
  hgvsp: ENSP00000451215.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.224G>A
  hgvsp: ENSP00000451126.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.224G>A
  hgvsp: ENSP00000333203.7:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.224G>A
  hgvsp: ENSP00000450484.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.224G>A
  hgvsp: ENSP00000452469.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.224G>A
  hgvsp: ENSP00000450745.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.224G>A
  hgvsp: ENSP00000451697.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.341G>A
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser75Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-95053926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053926
    reference: chr 14
allele count: 2
allele frequency: 1.659062629614268e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.344T>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.227T>C
  hgvsp: ENSP00000450745.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.227T>C
  hgvsp: ENSP00000333203.7:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.227T>C
  hgvsp: ENSP00000452469.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.227T>C
  hgvsp: ENSP00000451697.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.227T>C
  hgvsp: ENSP00000450837.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.227T>C
  hgvsp: ENSP00000451126.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.227T>C
  hgvsp: ENSP00000451610.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.227T>C
  hgvsp: ENSP00000450484.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.227T>C
  hgvsp: ENSP00000451215.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.227T>C
  hgvsp: ENSP00000450485.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.227T>C
  hgvsp: ENSP00000451650.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu76Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

14-95053927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053927
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053927
    reference: chr 14
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.228G>A
  hgvsp: ENST00000557598.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.228G>A
  hgvsp: ENST00000553511.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.228G>A
  hgvsp: ENST00000556775.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.228G>A
  hgvsp: ENST00000554633.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.228G>A
  hgvsp: ENST00000554220.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.228G>A
  hgvsp: ENST00000329597.7:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.228G>A
  hgvsp: ENST00000554276.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.228G>A
  hgvsp: ENST00000554866.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.228G>A
  hgvsp: ENST00000555681.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.228G>A
  hgvsp: ENST00000554760.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.345G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.228G>A
  hgvsp: ENST00000553780.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu76Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-95053931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053931
    reference: chr 14
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.232A>G
  hgvsp: ENSP00000451215.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.232A>G
  hgvsp: ENSP00000450745.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.232A>G
  hgvsp: ENSP00000450837.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.232A>G
  hgvsp: ENSP00000451697.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.232A>G
  hgvsp: ENSP00000333203.7:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.232A>G
  hgvsp: ENSP00000450484.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.232A>G
  hgvsp: ENSP00000451650.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.232A>G
  hgvsp: ENSP00000451126.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.232A>G
  hgvsp: ENSP00000452469.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.232A>G
  hgvsp: ENSP00000450485.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.232A>G
  hgvsp: ENSP00000451610.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.349A>G
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met78Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-95053934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053934
    reference: chr 14
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.235C>T
  hgvsp: ENSP00000451650.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.235C>T
  hgvsp: ENSP00000450484.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.235C>T
  hgvsp: ENSP00000451215.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.235C>T
  hgvsp: ENSP00000450485.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.235C>T
  hgvsp: ENSP00000452469.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.235C>T
  hgvsp: ENSP00000451126.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.235C>T
  hgvsp: ENSP00000450745.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.352C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.235C>T
  hgvsp: ENSP00000333203.7:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.235C>T
  hgvsp: ENSP00000451697.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.235C>T
  hgvsp: ENSP00000451610.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.235C>T
  hgvsp: ENSP00000450837.1:p.Leu79Phe
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu79Phe
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-95053938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053938
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053938
    reference: chr 14
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.239C>T
  hgvsp: ENSP00000450485.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.239C>T
  hgvsp: ENSP00000450837.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.239C>T
  hgvsp: ENSP00000450484.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.239C>T
  hgvsp: ENSP00000450745.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.239C>T
  hgvsp: ENSP00000333203.7:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.239C>T
  hgvsp: ENSP00000451215.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.239C>T
  hgvsp: ENSP00000451126.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.239C>T
  hgvsp: ENSP00000451650.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.239C>T
  hgvsp: ENSP00000452469.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.239C>T
  hgvsp: ENSP00000451610.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.356C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.239C>T
  hgvsp: ENSP00000451697.1:p.Ser80Phe
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser80Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

14-95053942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053942
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053942
    reference: chr 14
allele count: 2
allele frequency: 1.662759182587586e-5
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.243G>A
  hgvsp: ENST00000553780.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.243G>A
  hgvsp: ENST00000553511.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.243G>A
  hgvsp: ENST00000555681.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.360G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.243G>A
  hgvsp: ENST00000554866.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.243G>A
  hgvsp: ENST00000556775.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.243G>A
  hgvsp: ENST00000329597.7:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.243G>A
  hgvsp: ENST00000554760.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.243G>A
  hgvsp: ENST00000554220.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.243G>A
  hgvsp: ENST00000554633.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.243G>A
  hgvsp: ENST00000557598.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.243G>A
  hgvsp: ENST00000554276.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu81Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

14-95053944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053944
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053944
    reference: chr 14
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.245G>A
  hgvsp: ENSP00000450485.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.245G>A
  hgvsp: ENSP00000450484.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.245G>A
  hgvsp: ENSP00000450837.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.245G>A
  hgvsp: ENSP00000451610.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.362G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.245G>A
  hgvsp: ENSP00000452469.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.245G>A
  hgvsp: ENSP00000333203.7:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.245G>A
  hgvsp: ENSP00000451697.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.245G>A
  hgvsp: ENSP00000450745.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.245G>A
  hgvsp: ENSP00000451126.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.245G>A
  hgvsp: ENSP00000451650.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.245G>A
  hgvsp: ENSP00000451215.1:p.Gly82Glu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly82Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-95053947-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053947
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053947
    reference: chr 14
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.248C>A
  hgvsp: ENSP00000450485.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.248C>A
  hgvsp: ENSP00000451650.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.248C>A
  hgvsp: ENSP00000451610.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.248C>A
  hgvsp: ENSP00000451126.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.248C>A
  hgvsp: ENSP00000450745.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.248C>A
  hgvsp: ENSP00000450484.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.365C>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.248C>A
  hgvsp: ENSP00000452469.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.248C>A
  hgvsp: ENSP00000450837.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.248C>A
  hgvsp: ENSP00000451215.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.248C>A
  hgvsp: ENSP00000333203.7:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.248C>A
  hgvsp: ENSP00000451697.1:p.Ala83Asp
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala83Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

14-95053950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053950
    reference: chr 14
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.251G>A
  hgvsp: ENSP00000452469.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.251G>A
  hgvsp: ENSP00000450484.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.251G>A
  hgvsp: ENSP00000450745.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.251G>A
  hgvsp: ENSP00000451650.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.251G>A
  hgvsp: ENSP00000450837.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.251G>A
  hgvsp: ENSP00000451215.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.251G>A
  hgvsp: ENSP00000451126.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.251G>A
  hgvsp: ENSP00000333203.7:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.368G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.251G>A
  hgvsp: ENSP00000451610.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.251G>A
  hgvsp: ENSP00000451697.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.251G>A
  hgvsp: ENSP00000450485.1:p.Gly84Glu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly84Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-95053953-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053953
    reference: chr 14
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.371C>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.254C>A
  hgvsp: ENSP00000451650.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.254C>A
  hgvsp: ENSP00000451610.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.254C>A
  hgvsp: ENSP00000450485.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.254C>A
  hgvsp: ENSP00000450484.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.254C>A
  hgvsp: ENSP00000451126.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.254C>A
  hgvsp: ENSP00000450837.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.254C>A
  hgvsp: ENSP00000450745.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.254C>A
  hgvsp: ENSP00000451697.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.254C>A
  hgvsp: ENSP00000452469.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.254C>A
  hgvsp: ENSP00000333203.7:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.254C>A
  hgvsp: ENSP00000451215.1:p.Ser85Tyr
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser85Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-95053953-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053953
    reference: chr 14
allele count: 2
allele frequency: 1.663395322532353e-5
allele num: 120236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.254C>G
  hgvsp: ENSP00000450484.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.254C>G
  hgvsp: ENSP00000451215.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.254C>G
  hgvsp: ENSP00000452469.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451697
  ensembl transcript: ENST00000554633
  gene symbol: SERPINA5
  hgvsc: ENST00000554633.1:c.254C>G
  hgvsp: ENSP00000451697.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.371C>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.254C>G
  hgvsp: ENSP00000451650.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.254C>G
  hgvsp: ENSP00000451126.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.254C>G
  hgvsp: ENSP00000450837.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.254C>G
  hgvsp: ENSP00000450745.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.254C>G
  hgvsp: ENSP00000451610.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.254C>G
  hgvsp: ENSP00000333203.7:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.254C>G
  hgvsp: ENSP00000450485.1:p.Ser85Cys
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser85Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-95053961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053961
    reference: chr 14
allele count: 2
allele frequency: 1.663672056964131e-5
allele num: 120216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.262A>G
  hgvsp: ENSP00000451650.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.262A>G
  hgvsp: ENSP00000451126.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.262A>G
  hgvsp: ENSP00000450484.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.262A>G
  hgvsp: ENSP00000452469.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.262A>G
  hgvsp: ENSP00000450745.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.262A>G
  hgvsp: ENSP00000333203.7:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.262A>G
  hgvsp: ENSP00000451610.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.379A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.262A>G
  hgvsp: ENSP00000451215.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.262A>G
  hgvsp: ENSP00000450837.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.262A>G
  hgvsp: ENSP00000450485.1:p.Lys88Glu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys88Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-95053964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053964
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053964
    reference: chr 14
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.382A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.265A>G
  hgvsp: ENSP00000451215.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.265A>G
  hgvsp: ENSP00000451650.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.265A>G
  hgvsp: ENSP00000450745.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.265A>G
  hgvsp: ENSP00000451126.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.265A>G
  hgvsp: ENSP00000452469.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.265A>G
  hgvsp: ENSP00000451610.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.265A>G
  hgvsp: ENSP00000450484.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.265A>G
  hgvsp: ENSP00000333203.7:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.265A>G
  hgvsp: ENSP00000450837.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.265A>G
  hgvsp: ENSP00000450485.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met89Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

14-95053964-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053964
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053964
    reference: chr 14
allele count: 17
allele frequency: 1.414168302665291e-4
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.265A>T
  hgvsp: ENSP00000450745.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.265A>T
  hgvsp: ENSP00000450485.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.265A>T
  hgvsp: ENSP00000451126.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.265A>T
  hgvsp: ENSP00000450837.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.265A>T
  hgvsp: ENSP00000450484.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.265A>T
  hgvsp: ENSP00000452469.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.265A>T
  hgvsp: ENSP00000451650.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.382A>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.265A>T
  hgvsp: ENSP00000451215.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.265A>T
  hgvsp: ENSP00000451610.1:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.265A>T
  hgvsp: ENSP00000333203.7:p.Met89Leu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met89Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

14-95053971-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053971
    reference: chr 14
allele count: 4
allele frequency: 3.328894806924101e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.272T>A
  hgvsp: ENSP00000451610.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.272T>A
  hgvsp: ENSP00000333203.7:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.272T>A
  hgvsp: ENSP00000450745.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.272T>A
  hgvsp: ENSP00000450484.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.272T>A
  hgvsp: ENSP00000451650.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.272T>A
  hgvsp: ENSP00000450485.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.272T>A
  hgvsp: ENSP00000451126.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.272T>A
  hgvsp: ENST00000553511.1:c.272T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.272T>A
  hgvsp: ENSP00000452469.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.272T>A
  hgvsp: ENSP00000450837.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.389T>A
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile91Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-95053971-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053971
    reference: chr 14
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.272T>C
  hgvsp: ENSP00000450745.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.272T>C
  hgvsp: ENSP00000333203.7:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.272T>C
  hgvsp: ENSP00000452469.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.272T>C
  hgvsp: ENSP00000451610.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.272T>C
  hgvsp: ENSP00000451126.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.272T>C
  hgvsp: ENSP00000450484.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.389T>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.272T>C
  hgvsp: ENSP00000450837.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.272T>C
  hgvsp: ENSP00000450485.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.272T>C
  hgvsp: ENSP00000451650.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451215
  ensembl transcript: ENST00000553511
  gene symbol: SERPINA5
  hgvsc: ENST00000553511.1:c.272T>C
  hgvsp: ENST00000553511.1:c.272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile91Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

14-95053973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053973
    reference: chr 14
allele count: 5
allele frequency: 4.16472312920637e-5
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.274C>T
  hgvsp: ENST00000553780.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.274C>T
  hgvsp: ENST00000554760.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.274C>T
  hgvsp: ENST00000554276.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.274C>T
  hgvsp: ENST00000557598.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.274C>T
  hgvsp: ENST00000554866.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.274C>T
  hgvsp: ENST00000556775.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.274C>T
  hgvsp: ENST00000554220.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.274C>T
  hgvsp: ENST00000555681.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.274C>T
  hgvsp: ENST00000329597.7:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.391C>T
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17047
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu92Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-95053975-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053975
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053975
    reference: chr 14
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.276G>T
  hgvsp: ENST00000554866.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.276G>T
  hgvsp: ENST00000556775.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.276G>T
  hgvsp: ENST00000554760.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.393G>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.276G>T
  hgvsp: ENST00000555681.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.276G>T
  hgvsp: ENST00000554220.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.276G>T
  hgvsp: ENST00000553780.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.276G>T
  hgvsp: ENST00000557598.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.276G>T
  hgvsp: ENST00000329597.7:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.276G>T
  hgvsp: ENST00000554276.1:c.276G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10013
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu92Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

14-95053975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053975
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053975
    reference: chr 14
allele count: 2
allele frequency: 1.665861500274867e-5
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.276G>A
  hgvsp: ENST00000554866.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.276G>A
  hgvsp: ENST00000557598.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.276G>A
  hgvsp: ENST00000553780.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.276G>A
  hgvsp: ENST00000555681.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.276G>A
  hgvsp: ENST00000554760.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.276G>A
  hgvsp: ENST00000554220.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.393G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.276G>A
  hgvsp: ENST00000556775.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.276G>A
  hgvsp: ENST00000329597.7:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.276G>A
  hgvsp: ENST00000554276.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu92Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-95053977-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053977
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053977
    reference: chr 14
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.278A>T
  hgvsp: ENSP00000450837.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.278A>T
  hgvsp: ENSP00000451650.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.278A>T
  hgvsp: ENSP00000451126.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.278A>T
  hgvsp: ENSP00000452469.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.278A>T
  hgvsp: ENSP00000450484.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.395A>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.278A>T
  hgvsp: ENSP00000450745.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.278A>T
  hgvsp: ENSP00000451610.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.278A>T
  hgvsp: ENSP00000333203.7:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.278A>T
  hgvsp: ENSP00000450485.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu93Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-95053978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053978
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053978
    reference: chr 14
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.279G>A
  hgvsp: ENST00000556775.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.279G>A
  hgvsp: ENST00000554220.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.279G>A
  hgvsp: ENST00000555681.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.279G>A
  hgvsp: ENST00000554866.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.279G>A
  hgvsp: ENST00000554276.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.396G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.279G>A
  hgvsp: ENST00000329597.7:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.279G>A
  hgvsp: ENST00000554760.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.279G>A
  hgvsp: ENST00000553780.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.279G>A
  hgvsp: ENST00000557598.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu93Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

14-95053980-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053980
    reference: chr 14
allele count: 67
allele frequency: 5.584357132140893e-4
allele num: 119978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.281G>T
  hgvsp: ENSP00000451610.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.281G>T
  hgvsp: ENSP00000450745.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.281G>T
  hgvsp: ENSP00000451126.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.281G>T
  hgvsp: ENSP00000451650.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.281G>T
  hgvsp: ENSP00000452469.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.281G>T
  hgvsp: ENSP00000450484.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.281G>T
  hgvsp: ENSP00000450837.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.281G>T
  hgvsp: ENSP00000450485.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.281G>T
  hgvsp: ENSP00000333203.7:p.Gly94Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.398G>T
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 9.75e1
  variant carriers: 64
hgvs: p.Gly94Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

14-95053983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053983
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053983
    reference: chr 14
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.401T>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.284T>C
  hgvsp: ENSP00000450485.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.284T>C
  hgvsp: ENSP00000450745.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.284T>C
  hgvsp: ENSP00000451650.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.284T>C
  hgvsp: ENSP00000450837.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.284T>C
  hgvsp: ENSP00000450484.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.284T>C
  hgvsp: ENSP00000452469.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.284T>C
  hgvsp: ENSP00000451126.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.284T>C
  hgvsp: ENSP00000451610.1:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.284T>C
  hgvsp: ENSP00000333203.7:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu95Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-95053993-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053993
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053993
    reference: chr 14
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.411C>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.294C>A
  hgvsp: ENSP00000333203.7:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.294C>A
  hgvsp: ENSP00000451610.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.294C>A
  hgvsp: ENSP00000451650.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.294C>A
  hgvsp: ENSP00000450484.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.294C>A
  hgvsp: ENSP00000452469.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.294C>A
  hgvsp: ENSP00000450485.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.294C>A
  hgvsp: ENSP00000450837.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.294C>A
  hgvsp: ENSP00000450745.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.294C>A
  hgvsp: ENSP00000451126.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn98Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-95053993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053993
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053993
    reference: chr 14
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.294C>G
  hgvsp: ENSP00000450745.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.294C>G
  hgvsp: ENSP00000451650.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.294C>G
  hgvsp: ENSP00000451126.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.411C>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.294C>G
  hgvsp: ENSP00000450837.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.294C>G
  hgvsp: ENSP00000333203.7:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.294C>G
  hgvsp: ENSP00000451610.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.294C>G
  hgvsp: ENSP00000450485.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.294C>G
  hgvsp: ENSP00000452469.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.294C>G
  hgvsp: ENSP00000450484.1:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn98Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-95053994-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053994
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053994
    reference: chr 14
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.295C>G
  hgvsp: ENSP00000333203.7:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.295C>G
  hgvsp: ENSP00000451610.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.295C>G
  hgvsp: ENSP00000451650.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.295C>G
  hgvsp: ENSP00000451126.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.412C>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.295C>G
  hgvsp: ENSP00000452469.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.295C>G
  hgvsp: ENSP00000450745.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.295C>G
  hgvsp: ENSP00000450837.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.295C>G
  hgvsp: ENSP00000450485.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.295C>G
  hgvsp: ENSP00000450484.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu99Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-95053996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053996
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053996
    reference: chr 14
allele count: 2
allele frequency: 1.667000066680003e-5
allele num: 119976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.414C>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.297C>A
  hgvsp: ENST00000554220.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.297C>A
  hgvsp: ENST00000554760.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.297C>A
  hgvsp: ENST00000329597.7:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.297C>A
  hgvsp: ENST00000555681.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.297C>A
  hgvsp: ENST00000556775.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.297C>A
  hgvsp: ENST00000553780.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.297C>A
  hgvsp: ENST00000557598.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.297C>A
  hgvsp: ENST00000554866.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.297C>A
  hgvsp: ENST00000554276.1:c.297C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu99Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

14-95053998-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95053998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95053998
    reference: chr 14
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.299A>T
  hgvsp: ENSP00000451126.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.416A>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.299A>T
  hgvsp: ENSP00000450484.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.299A>T
  hgvsp: ENSP00000450485.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.299A>T
  hgvsp: ENSP00000450745.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.299A>T
  hgvsp: ENSP00000452469.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.299A>T
  hgvsp: ENSP00000451650.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.299A>T
  hgvsp: ENSP00000450837.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.299A>T
  hgvsp: ENSP00000333203.7:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.299A>T
  hgvsp: ENSP00000451610.1:p.Gln100Leu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln100Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

14-95054012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054012
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054012
    reference: chr 14
allele count: 17874
allele frequency: 1.488036763848882e-1
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.313A>G
  hgvsp: ENSP00000451126.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.313A>G
  hgvsp: ENSP00000451610.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.313A>G
  hgvsp: ENSP00000333203.7:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.313A>G
  hgvsp: ENSP00000450484.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.313A>G
  hgvsp: ENSP00000452469.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.313A>G
  hgvsp: ENSP00000450745.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.430A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.313A>G
  hgvsp: ENSP00000451650.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.313A>G
  hgvsp: ENSP00000450837.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.313A>G
  hgvsp: ENSP00000450485.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 4.25e1
  variant carriers: 1638
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 1014
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 2329
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 2.75e1
  variant carriers: 2680
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 1037
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 1959
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 695
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 3.25e1
  variant carriers: 2796
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.75e1
  variant carriers: 418
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 6.75e1
  variant carriers: 140
hgvs: p.Lys105Glu
num of homozygotes: 2268
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-95054014-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054014
    reference: chr 14
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.315G>C
  hgvsp: ENSP00000333203.7:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.315G>C
  hgvsp: ENSP00000450745.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.315G>C
  hgvsp: ENSP00000450484.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.315G>C
  hgvsp: ENSP00000450837.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.315G>C
  hgvsp: ENSP00000451610.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.315G>C
  hgvsp: ENSP00000451126.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.315G>C
  hgvsp: ENSP00000450485.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.315G>C
  hgvsp: ENSP00000451650.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.432G>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.315G>C
  hgvsp: ENSP00000452469.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys105Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

14-95054020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054020
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054020
    reference: chr 14
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.438G>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.321G>T
  hgvsp: ENST00000555681.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.321G>T
  hgvsp: ENST00000554276.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.321G>T
  hgvsp: ENST00000556775.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.321G>T
  hgvsp: ENST00000553780.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.321G>T
  hgvsp: ENST00000329597.7:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.321G>T
  hgvsp: ENST00000554220.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.321G>T
  hgvsp: ENST00000554760.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.321G>T
  hgvsp: ENST00000554866.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.321G>T
  hgvsp: ENST00000557598.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu107Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-95054027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054027
    reference: chr 14
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.328G>C
  hgvsp: ENSP00000451610.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.328G>C
  hgvsp: ENSP00000451126.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.328G>C
  hgvsp: ENSP00000451650.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.328G>C
  hgvsp: ENSP00000333203.7:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.328G>C
  hgvsp: ENSP00000450485.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.328G>C
  hgvsp: ENSP00000450837.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.328G>C
  hgvsp: ENSP00000450745.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.328G>C
  hgvsp: ENSP00000450484.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.445G>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.328G>C
  hgvsp: ENSP00000452469.1:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly110Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-95054042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054042
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054042
    reference: chr 14
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.343C>T
  hgvsp: ENSP00000450837.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.343C>T
  hgvsp: ENSP00000333203.7:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.343C>T
  hgvsp: ENSP00000452469.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.343C>T
  hgvsp: ENSP00000450484.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.343C>T
  hgvsp: ENSP00000451610.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.343C>T
  hgvsp: ENSP00000450745.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.343C>T
  hgvsp: ENSP00000451126.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.460C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.343C>T
  hgvsp: ENSP00000451650.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.343C>T
  hgvsp: ENSP00000450485.1:p.Leu115Phe
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu115Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-95054045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054045
    reference: chr 14
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.346C>T
  hgvsp: ENSP00000452469.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.346C>T
  hgvsp: ENSP00000450837.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.346C>T
  hgvsp: ENSP00000451126.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.346C>T
  hgvsp: ENSP00000450745.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.346C>T
  hgvsp: ENSP00000451610.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.346C>T
  hgvsp: ENSP00000450485.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.346C>T
  hgvsp: ENSP00000450484.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.346C>T
  hgvsp: ENSP00000451650.1:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.463C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.346C>T
  hgvsp: ENSP00000333203.7:p.Gln116Ter
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln116Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-95054051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054051
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054051
    reference: chr 14
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.352C>A
  hgvsp: ENSP00000333203.7:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.352C>A
  hgvsp: ENSP00000451610.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.352C>A
  hgvsp: ENSP00000450484.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.352C>A
  hgvsp: ENSP00000451650.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.352C>A
  hgvsp: ENSP00000452469.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.352C>A
  hgvsp: ENSP00000450485.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.352C>A
  hgvsp: ENSP00000451126.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.352C>A
  hgvsp: ENSP00000450745.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.352C>A
  hgvsp: ENSP00000450837.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.469C>A
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu118Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-95054052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054052
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054052
    reference: chr 14
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.353T>C
  hgvsp: ENSP00000450837.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.353T>C
  hgvsp: ENSP00000452469.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.353T>C
  hgvsp: ENSP00000451126.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.353T>C
  hgvsp: ENSP00000451650.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.353T>C
  hgvsp: ENSP00000450484.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.353T>C
  hgvsp: ENSP00000333203.7:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.353T>C
  hgvsp: ENSP00000450745.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.353T>C
  hgvsp: ENSP00000451610.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.470T>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.353T>C
  hgvsp: ENSP00000450485.1:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu118Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-95054054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054054
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054054
    reference: chr 14
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.355A>G
  hgvsp: ENSP00000451650.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.355A>G
  hgvsp: ENSP00000451126.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.355A>G
  hgvsp: ENSP00000450745.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.355A>G
  hgvsp: ENSP00000451610.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.355A>G
  hgvsp: ENSP00000450484.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.355A>G
  hgvsp: ENSP00000450837.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.355A>G
  hgvsp: ENSP00000333203.7:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.355A>G
  hgvsp: ENSP00000452469.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.472A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.355A>G
  hgvsp: ENSP00000450485.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn119Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

14-95054055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054055
    reference: chr 14
allele count: 60
allele frequency: 4.962122465182441e-4
allele num: 120916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.356A>G
  hgvsp: ENSP00000452469.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.356A>G
  hgvsp: ENSP00000450745.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.356A>G
  hgvsp: ENSP00000450484.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.356A>G
  hgvsp: ENSP00000333203.7:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.356A>G
  hgvsp: ENSP00000451126.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.356A>G
  hgvsp: ENSP00000451650.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.356A>G
  hgvsp: ENSP00000451610.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.356A>G
  hgvsp: ENSP00000450837.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.473A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.356A>G
  hgvsp: ENSP00000450485.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn119Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-95054056-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054056
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054056
    reference: chr 14
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.357C>G
  hgvsp: ENSP00000450745.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.357C>G
  hgvsp: ENSP00000451650.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.357C>G
  hgvsp: ENSP00000452469.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.357C>G
  hgvsp: ENSP00000451610.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.357C>G
  hgvsp: ENSP00000450837.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.357C>G
  hgvsp: ENSP00000450484.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.357C>G
  hgvsp: ENSP00000451126.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.357C>G
  hgvsp: ENSP00000333203.7:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.357C>G
  hgvsp: ENSP00000450485.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.474C>G
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn119Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-95054056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054056
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054056
    reference: chr 14
allele count: 69
allele frequency: 5.706346449660101e-4
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.357C>T
  hgvsp: ENST00000553780.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.357C>T
  hgvsp: ENST00000556775.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.357C>T
  hgvsp: ENST00000554276.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.357C>T
  hgvsp: ENST00000554760.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.357C>T
  hgvsp: ENST00000554866.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.357C>T
  hgvsp: ENST00000557598.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.357C>T
  hgvsp: ENST00000555681.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.357C>T
  hgvsp: ENST00000554220.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.474C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.357C>T
  hgvsp: ENST00000329597.7:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn119Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-95054060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054060
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054060
    reference: chr 14
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.361C>T
  hgvsp: ENSP00000450837.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.361C>T
  hgvsp: ENSP00000451126.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.361C>T
  hgvsp: ENSP00000450484.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.361C>T
  hgvsp: ENSP00000450745.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.361C>T
  hgvsp: ENSP00000452469.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.478C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.361C>T
  hgvsp: ENSP00000333203.7:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.361C>T
  hgvsp: ENSP00000451610.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.361C>T
  hgvsp: ENSP00000451650.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.361C>T
  hgvsp: ENSP00000450485.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro121Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-95054061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054061
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054061
    reference: chr 14
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.362C>T
  hgvsp: ENSP00000451610.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.362C>T
  hgvsp: ENSP00000450745.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.362C>T
  hgvsp: ENSP00000452469.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.479C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.362C>T
  hgvsp: ENSP00000451650.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.362C>T
  hgvsp: ENSP00000451126.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.362C>T
  hgvsp: ENSP00000333203.7:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.362C>T
  hgvsp: ENSP00000450485.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.362C>T
  hgvsp: ENSP00000450837.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.362C>T
  hgvsp: ENSP00000450484.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro121Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-95054080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054080
    reference: chr 14
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.381G>C
  hgvsp: ENST00000555681.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.381G>C
  hgvsp: ENST00000556775.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.381G>C
  hgvsp: ENST00000554760.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.381G>C
  hgvsp: ENST00000554276.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.381G>C
  hgvsp: ENST00000554866.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.381G>C
  hgvsp: ENST00000557598.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.381G>C
  hgvsp: ENST00000329597.7:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.381G>C
  hgvsp: ENST00000553780.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.381G>C
  hgvsp: ENST00000554220.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.498G>C
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu127Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-95054081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054081
    reference: chr 14
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.382A>G
  hgvsp: ENSP00000450837.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.382A>G
  hgvsp: ENSP00000450484.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.382A>G
  hgvsp: ENSP00000451650.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.382A>G
  hgvsp: ENSP00000451126.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.382A>G
  hgvsp: ENSP00000450485.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.382A>G
  hgvsp: ENSP00000451610.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.382A>G
  hgvsp: ENSP00000333203.7:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.499A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.382A>G
  hgvsp: ENSP00000452469.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.382A>G
  hgvsp: ENSP00000450745.1:p.Ser128Gly
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10242
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser128Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-95054084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054084
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054084
    reference: chr 14
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.502C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.385C>T
  hgvsp: ENSP00000333203.7:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.385C>T
  hgvsp: ENSP00000451126.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.385C>T
  hgvsp: ENSP00000451650.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.385C>T
  hgvsp: ENSP00000451610.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.385C>T
  hgvsp: ENSP00000450485.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.385C>T
  hgvsp: ENSP00000450484.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.385C>T
  hgvsp: ENSP00000450745.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.385C>T
  hgvsp: ENSP00000452469.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.385C>T
  hgvsp: ENSP00000450837.1:p.Leu129Phe
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu129Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

14-95054086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054086
    reference: chr 14
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.387C>T
  hgvsp: ENST00000554276.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.387C>T
  hgvsp: ENST00000554220.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.387C>T
  hgvsp: ENST00000554760.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.387C>T
  hgvsp: ENST00000556775.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.387C>T
  hgvsp: ENST00000555681.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.387C>T
  hgvsp: ENST00000553780.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.387C>T
  hgvsp: ENST00000329597.7:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.387C>T
  hgvsp: ENST00000554866.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.387C>T
  hgvsp: ENST00000557598.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.504C>T
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu129Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-95054087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054087
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054087
    reference: chr 14
allele count: 201
allele frequency: 1.660224006343543e-3
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.388G>A
  hgvsp: ENSP00000450484.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.388G>A
  hgvsp: ENSP00000452469.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.388G>A
  hgvsp: ENSP00000450837.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.388G>A
  hgvsp: ENSP00000450745.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.388G>A
  hgvsp: ENSP00000450485.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.388G>A
  hgvsp: ENSP00000451650.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.388G>A
  hgvsp: ENSP00000333203.7:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.505G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.388G>A
  hgvsp: ENSP00000451126.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.388G>A
  hgvsp: ENSP00000451610.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16133
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly130Ser
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

14-95054088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054088
    reference: chr 14
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.506G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.389G>A
  hgvsp: ENSP00000452469.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.389G>A
  hgvsp: ENSP00000450485.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.389G>A
  hgvsp: ENSP00000450837.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.389G>A
  hgvsp: ENSP00000450745.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.389G>A
  hgvsp: ENSP00000451126.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.389G>A
  hgvsp: ENSP00000450484.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.389G>A
  hgvsp: ENSP00000333203.7:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.389G>A
  hgvsp: ENSP00000451610.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.389G>A
  hgvsp: ENSP00000451650.1:p.Gly130Asp
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly130Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-95054101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054101
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054101
    reference: chr 14
allele count: 2
allele frequency: 1.651200422707308e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.402C>T
  hgvsp: ENST00000555681.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.402C>T
  hgvsp: ENST00000329597.7:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.402C>T
  hgvsp: ENST00000554220.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.402C>T
  hgvsp: ENST00000553780.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.402C>T
  hgvsp: ENST00000556775.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.402C>T
  hgvsp: ENST00000554760.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.402C>T
  hgvsp: ENST00000554866.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.519C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.402C>T
  hgvsp: ENST00000557598.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.402C>T
  hgvsp: ENST00000554276.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe134Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-95054104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054104
    reference: chr 14
allele count: 27
allele frequency: 2.229083764014332e-4
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.405C>T
  hgvsp: ENST00000553780.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.522C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.405C>T
  hgvsp: ENST00000554276.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.405C>T
  hgvsp: ENST00000557598.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.405C>T
  hgvsp: ENST00000554866.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.405C>T
  hgvsp: ENST00000329597.7:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.405C>T
  hgvsp: ENST00000554220.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.405C>T
  hgvsp: ENST00000556775.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.405C>T
  hgvsp: ENST00000555681.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.405C>T
  hgvsp: ENST00000554760.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10413
  bin: 9.75e1
  variant carriers: 27
hgvs: p.Thr135Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-95054105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054105
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054105
    reference: chr 14
allele count: 4
allele frequency: 3.302237265747544e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.523G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.406G>A
  hgvsp: ENSP00000450485.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.406G>A
  hgvsp: ENSP00000451650.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.406G>A
  hgvsp: ENSP00000450745.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.406G>A
  hgvsp: ENSP00000450837.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.406G>A
  hgvsp: ENSP00000450484.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.406G>A
  hgvsp: ENSP00000452469.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.406G>A
  hgvsp: ENSP00000451610.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.406G>A
  hgvsp: ENSP00000333203.7:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.406G>A
  hgvsp: ENSP00000451126.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp136Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-95054106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054106
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054106
    reference: chr 14
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.407A>G
  hgvsp: ENSP00000451610.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.407A>G
  hgvsp: ENSP00000451126.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.407A>G
  hgvsp: ENSP00000452469.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.407A>G
  hgvsp: ENSP00000450745.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.407A>G
  hgvsp: ENSP00000451650.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.407A>G
  hgvsp: ENSP00000333203.7:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.524A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.407A>G
  hgvsp: ENSP00000450484.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.407A>G
  hgvsp: ENSP00000450485.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.407A>G
  hgvsp: ENSP00000450837.1:p.Asp136Gly
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp136Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-95054107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054107
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054107
    reference: chr 14
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.408C>A
  hgvsp: ENSP00000450484.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.408C>A
  hgvsp: ENSP00000451650.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.408C>A
  hgvsp: ENSP00000450485.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.408C>A
  hgvsp: ENSP00000451610.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.408C>A
  hgvsp: ENSP00000452469.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.408C>A
  hgvsp: ENSP00000333203.7:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.525C>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.408C>A
  hgvsp: ENSP00000451126.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.408C>A
  hgvsp: ENSP00000450745.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.408C>A
  hgvsp: ENSP00000450837.1:p.Asp136Glu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp136Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-95054107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054107
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054107
    reference: chr 14
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.408C>T
  hgvsp: ENST00000554220.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.408C>T
  hgvsp: ENST00000556775.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.525C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.408C>T
  hgvsp: ENST00000555681.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.408C>T
  hgvsp: ENST00000553780.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.408C>T
  hgvsp: ENST00000557598.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.408C>T
  hgvsp: ENST00000554866.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.408C>T
  hgvsp: ENST00000329597.7:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.408C>T
  hgvsp: ENST00000554760.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.408C>T
  hgvsp: ENST00000554276.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20292
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp136Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

14-95054119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054119
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054119
    reference: chr 14
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.420C>T
  hgvsp: ENST00000554220.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.420C>T
  hgvsp: ENST00000557598.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.420C>T
  hgvsp: ENST00000554760.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.420C>T
  hgvsp: ENST00000553780.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.420C>T
  hgvsp: ENST00000556775.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.420C>T
  hgvsp: ENST00000329597.7:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.537C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.420C>T
  hgvsp: ENST00000554866.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.420C>T
  hgvsp: ENST00000555681.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.420C>T
  hgvsp: ENST00000554276.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp140Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-95054120-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054120
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054120
    reference: chr 14
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.421C>G
  hgvsp: ENSP00000452469.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.538C>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.421C>G
  hgvsp: ENSP00000450484.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.421C>G
  hgvsp: ENSP00000333203.7:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.421C>G
  hgvsp: ENSP00000451610.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.421C>G
  hgvsp: ENSP00000451126.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.421C>G
  hgvsp: ENSP00000450745.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451650
  ensembl transcript: ENST00000555681
  gene symbol: SERPINA5
  hgvsc: ENST00000555681.1:c.421C>G
  hgvsp: ENSP00000451650.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.421C>G
  hgvsp: ENSP00000450485.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.421C>G
  hgvsp: ENSP00000450837.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu141Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-95054134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054134
    reference: chr 14
allele count: 3
allele frequency: 2.476064707824365e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.435C>T
  hgvsp: ENST00000556775.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.435C>T
  hgvsp: ENST00000554866.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.435C>T
  hgvsp: ENST00000329597.7:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.435C>T
  hgvsp: ENST00000557598.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.435C>T
  hgvsp: ENST00000554220.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.435C>T
  hgvsp: ENST00000554276.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.435C>T
  hgvsp: ENST00000553780.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.435C>T
  hgvsp: ENST00000554760.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.552C>T
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19980
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe145Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-95054135-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054135
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054135
    reference: chr 14
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.436G>T
  hgvsp: ENSP00000450837.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.553G>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.436G>T
  hgvsp: ENSP00000450485.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.436G>T
  hgvsp: ENSP00000450484.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.436G>T
  hgvsp: ENSP00000452469.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.436G>T
  hgvsp: ENSP00000451610.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.436G>T
  hgvsp: ENSP00000450745.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.436G>T
  hgvsp: ENSP00000451126.1:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.436G>T
  hgvsp: ENSP00000333203.7:p.Val146Leu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val146Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-95054137-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054137
    reference: chr 14
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.438A>C
  hgvsp: ENST00000554866.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.438A>C
  hgvsp: ENST00000556775.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.555A>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.438A>C
  hgvsp: ENST00000554220.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.438A>C
  hgvsp: ENST00000329597.7:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.438A>C
  hgvsp: ENST00000554276.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.438A>C
  hgvsp: ENST00000554760.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.438A>C
  hgvsp: ENST00000557598.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.438A>C
  hgvsp: ENST00000553780.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val146Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

14-95054141-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054141
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054141
    reference: chr 14
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.442G>T
  hgvsp: ENSP00000450485.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.442G>T
  hgvsp: ENSP00000451610.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.442G>T
  hgvsp: ENSP00000450484.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.442G>T
  hgvsp: ENSP00000333203.7:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.559G>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.442G>T
  hgvsp: ENSP00000450745.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.442G>T
  hgvsp: ENSP00000452469.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.442G>T
  hgvsp: ENSP00000450837.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.442G>T
  hgvsp: ENSP00000451126.1:p.Ala148Ser
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala148Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-95054144-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054144
    reference: chr 14
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.445A>C
  hgvsp: ENSP00000450745.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.445A>C
  hgvsp: ENSP00000451126.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.445A>C
  hgvsp: ENSP00000452469.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.562A>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.445A>C
  hgvsp: ENSP00000333203.7:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.445A>C
  hgvsp: ENSP00000450837.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.445A>C
  hgvsp: ENSP00000450485.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.445A>C
  hgvsp: ENSP00000450484.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.445A>C
  hgvsp: ENSP00000451610.1:p.Met149Leu
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met149Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-95054144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054144
    reference: chr 14
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.445A>G
  hgvsp: ENSP00000450485.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.445A>G
  hgvsp: ENSP00000451610.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.445A>G
  hgvsp: ENSP00000451126.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.445A>G
  hgvsp: ENSP00000450484.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.445A>G
  hgvsp: ENSP00000450745.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.445A>G
  hgvsp: ENSP00000333203.7:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.562A>G
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.445A>G
  hgvsp: ENSP00000452469.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.445A>G
  hgvsp: ENSP00000450837.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met149Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

14-95054151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054151
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054151
    reference: chr 14
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.452C>T
  hgvsp: ENSP00000333203.7:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.452C>T
  hgvsp: ENSP00000451126.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.452C>T
  hgvsp: ENSP00000452469.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.569C>T
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.452C>T
  hgvsp: ENSP00000450745.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.452C>T
  hgvsp: ENSP00000450837.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.452C>T
  hgvsp: ENSP00000450484.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.452C>T
  hgvsp: ENSP00000451610.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.452C>T
  hgvsp: ENSP00000450485.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr151Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

14-95054152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054152
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054152
    reference: chr 14
allele count: 155
allele frequency: 1.278709081309398e-3
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.453G>A
  hgvsp: ENST00000554760.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.570G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.453G>A
  hgvsp: ENST00000557598.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.453G>A
  hgvsp: ENST00000554276.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.453G>A
  hgvsp: ENST00000553780.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.453G>A
  hgvsp: ENST00000554866.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.453G>A
  hgvsp: ENST00000556775.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.453G>A
  hgvsp: ENST00000554220.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.453G>A
  hgvsp: ENST00000329597.7:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr151Thr
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-95054161-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054161
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054161
    reference: chr 14
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.462G>C
  hgvsp: ENST00000556775.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450485
  ensembl transcript: ENST00000557598
  gene symbol: SERPINA5
  hgvsc: ENST00000557598.1:c.462G>C
  hgvsp: ENST00000557598.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.462G>C
  hgvsp: ENST00000554220.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000333203
  ensembl transcript: ENST00000329597
  gene symbol: SERPINA5
  hgvsc: ENST00000329597.7:c.462G>C
  hgvsp: ENST00000329597.7:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.462G>C
  hgvsp: ENST00000554866.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.579G>C
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.462G>C
  hgvsp: ENST00000553780.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451610
  ensembl transcript: ENST00000554276
  gene symbol: SERPINA5
  hgvsc: ENST00000554276.1:c.462G>C
  hgvsp: ENST00000554276.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.462G>C
  hgvsp: ENST00000554760.1:c.462G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu154Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-95054162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95054162
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 95054162
    reference: chr 14
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000452469
  ensembl transcript: ENST00000554760
  gene symbol: SERPINA5
  hgvsc: ENST00000554760.1:c.463G>A
  hgvsp: ENSP00000452469.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450484
  ensembl transcript: ENST00000554220
  gene symbol: SERPINA5
  hgvsc: ENST00000554220.1:c.463G>A
  hgvsp: ENSP00000450484.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450837
  ensembl transcript: ENST00000553780
  gene symbol: SERPINA5
  hgvsc: ENST00000553780.1:c.463G>A
  hgvsp: ENSP00000450837.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188488
  ensembl transcript: ENST00000556730
  gene symbol: SERPINA5
  hgvsc: ENST00000556730.1:n.580G>A
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000450745
  ensembl transcript: ENST00000556775
  gene symbol: SERPINA5
  hgvsc: ENST00000556775.1:c.463G>A
  hgvsp: ENSP00000450745.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/8723
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188488
  ensembl protein: ENSP00000451126
  ensembl transcript: ENST00000554866
  gene symbol: SERPINA5
  hgvsc: ENST00000554866.1:c.463G>A
  hgvsp: ENSP00000451126.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/8723
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala155Thr
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1902
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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QD
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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MQ
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FS
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QD
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 66282
num of homozygotes: 0

Latino
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Other
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African
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South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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QD
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FS
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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MQ
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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East Asian
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QD
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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African
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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African
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East Asian
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.860206e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4525
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 922
bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026176426085641e-5
allele num: 66090
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.552e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.851224e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21061
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 3.231e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.847087e6

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 8695
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7523
bin: 9.75e1
variant carriers: 17

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 4224
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.476463435817266e-3
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 3.231e0

DP
type: SiteQuality
SIO_000300: 1.847087e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

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

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20077
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8607
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variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.054368226675546e-5
allele num: 66068
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 1.83658e6

VQSLOD
type: SiteQuality
SIO_000300: -5.67e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeDepth
all individuals: 98
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQRankSum
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 2.222e0

VQSLOD
type: SiteQuality
SIO_000300: -5.67e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1610
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
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South Asian
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allele count: 5
allele frequency: 3.039144176999757e-4
allele num: 16452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.3e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 1.827849e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.029752166272799e-5
allele num: 66012
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 4.51e-1

FS
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.372e0

InbreedingCoeff
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SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.33e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

South Asian
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allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 2.879e0

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
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East Asian
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: -1.324e0

VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

African
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allele count: 64
allele frequency: 6.345429307951616e-3
allele num: 10086
num of homozygotes: 0

South Asian
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allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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DP
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ClippingRankSum
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SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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Other
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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QD
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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allele num: 8526
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.914e0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.815815e6

GenotypeQuality
all individuals: 1424
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19156
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7506
bin: 9.75e1
variant carriers: 2

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031497256494983e-5
allele num: 65974
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.807e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 1.815667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.162e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
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GenotypeQuality
all individuals: 4475
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variant carriers: 0

GenotypeQuality
all individuals: 17517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2101
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.813638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.719000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.0172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
all individuals: 14923
bin: 6.25e1
variant carriers: 131

GenotypeQuality
all individuals: 1003
bin: 3.25e1
variant carriers: 40

GenotypeQuality
all individuals: 974
bin: 3.75e1
variant carriers: 55

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 708
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 538
bin: 4.25e1
variant carriers: 44

GenotypeQuality
all individuals: 870
bin: 4.75e1
variant carriers: 89

GenotypeQuality
all individuals: 3564
bin: 7.75e1
variant carriers: 163

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2876
bin: 8.25e1
variant carriers: 161

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 69

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 105

GenotypeQuality
all individuals: 1533
bin: 8.75e1
variant carriers: 99

GenotypeQuality
all individuals: 19913
bin: 9.75e1
variant carriers: 14274

GenotypeQuality
all individuals: 1705
bin: 9.25e1
variant carriers: 132

GenotypeQuality
all individuals: 3238
bin: 7.25e1
variant carriers: 99

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 17

GenotypeQuality
all individuals: 1136
bin: 2.25e1
variant carriers: 14

African
type: Population
allele count: 5484
allele frequency: 5.328410415856977e-1
allele num: 10292
num of homozygotes: 1448

Other
type: Population
allele count: 106
allele frequency: 1.183035714285714e-1
allele num: 896
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 718
allele frequency: 1.095179987797437e-1
allele num: 6556
num of homozygotes: 37

East Asian
type: Population
allele count: 2253
allele frequency: 2.661233167965982e-1
allele num: 8466
num of homozygotes: 293

South Asian
type: Population
allele count: 1592
allele frequency: 9.691951783757458e-2
allele num: 16426
num of homozygotes: 92

Latino
type: Population
allele count: 1274
allele frequency: 1.111498865817484e-1
allele num: 11462
num of homozygotes: 72

European (Non-Finnish)
type: Population
allele count: 6447
allele frequency: 9.76522265980006e-2
allele num: 66020
num of homozygotes: 318

FS
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 1.917544e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.226e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

QD
type: SiteQuality
SIO_000300: 1.783e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

GenotypeQuality
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.899674e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

FS
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 4817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 4148
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variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3936
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variant carriers: 0

GenotypeQuality
all individuals: 2177
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variant carriers: 0

GenotypeQuality
all individuals: 823
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variant carriers: 0

GenotypeQuality
all individuals: 7802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.905041e6

VQSLOD
type: SiteQuality
SIO_000300: -7.648e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.747e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
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variant carriers: 0

GenotypeQuality
all individuals: 10054
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variant carriers: 1

GenotypeQuality
all individuals: 657
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 1077
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variant carriers: 0

GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 2458
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 2203
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variant carriers: 0

GenotypeQuality
all individuals: 7952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 19076
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variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4938
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.914415e6

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

FS
type: SiteQuality
SIO_000300: 6.578e0

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 4228
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2498
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GenotypeQuality
all individuals: 20171
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2280
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variant carriers: 0

GenotypeQuality
all individuals: 10107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.935675e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.937e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
all individuals: 471
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20480
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GenotypeQuality
all individuals: 2508
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GenotypeQuality
all individuals: 2293
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 8344
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variant carriers: 0

GenotypeQuality
all individuals: 5231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10110
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.957e0

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.938796e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

FS
type: SiteQuality
SIO_000300: 3.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

GenotypeQuality
all individuals: 8433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.299e1

DP
type: SiteQuality
SIO_000300: 1.944408e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 8460
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.853e0

DP
type: SiteQuality
SIO_000300: 1.94521e6

VQSLOD
type: SiteQuality
SIO_000300: -6.325e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

QD
type: SiteQuality
SIO_000300: 8.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 4.184e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8490
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 4.661e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.714e1

DP
type: SiteQuality
SIO_000300: 1.947232e6

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4582
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variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

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

GenotypeQuality
all individuals: 4341
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5343
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10199
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 8476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 54
allele frequency: 5.230530802014723e-3
allele num: 10324
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512499623958364e-5
allele num: 66482
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 1.334e1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.948575e6

GenotypeQuality
all individuals: 2541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 260
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.95045e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 69

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.339524388127062e-4
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.856136943061794e-4
allele num: 16474
num of homozygotes: 0

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

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

African
type: Population
allele count: 56
allele frequency: 5.421103581800581e-3
allele num: 10330
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.95045e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 10203
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.953394e6

FS
type: SiteQuality
SIO_000300: 4.281e0

QD
type: SiteQuality
SIO_000300: 8.09e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

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

GenotypeQuality
all individuals: 8545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10207
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

DP
type: SiteQuality
SIO_000300: 1.953866e6

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 8.948e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

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

GenotypeQuality
all individuals: 8627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 4714
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20729
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.962339e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

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

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.962562e6

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 3.509e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

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

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

GenotypeQuality
all individuals: 2383
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variant carriers: 0

GenotypeQuality
all individuals: 10245
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variant carriers: 2

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 2593
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5545
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variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004175804368072e-5
allele num: 66574
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.963551e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20607
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.158e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.964531e6

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 200

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.899110939311944e-4
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 83
allele frequency: 5.033964095099467e-3
allele num: 16488
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.425712553062462e-3
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 93
allele frequency: 1.397151613484767e-3
allele num: 66564
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.331254331254331e-4
allele num: 11544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.971398e6

FS
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
SIO_000300: 1.299e1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 4504
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5578
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.971745e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.642e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 5.864e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.455e0

QD
type: SiteQuality
SIO_000300: 1.407e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 2416
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 292
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GenotypeQuality
all individuals: 2623
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GenotypeQuality
all individuals: 4793
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variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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Latino
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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Latino
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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Latino
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FS
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ReadPosRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4664
bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.503693028283192e-5
allele num: 66612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.985921e6

FS
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
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SIO_000300: -1.907e0

QD
type: SiteQuality
SIO_000300: 1.631e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -4.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 2.655e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 1.986457e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -4.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 2.376e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

DP
type: SiteQuality
SIO_000300: 1.98685e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 8860
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.076e1

VQSLOD
type: SiteQuality
SIO_000300: -7.317e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.987779e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.944e1

DP
type: SiteQuality
SIO_000300: 1.988763e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.990165e6

FS
type: SiteQuality
SIO_000300: 2.485e0

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 152

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200552254036857e-4
allele num: 66636
num of homozygotes: 0

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

East Asian
type: Population
allele count: 124
allele frequency: 1.435517480898356e-2
allele num: 8638
num of homozygotes: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 8
allele frequency: 4.847309743092584e-4
allele num: 16504
num of homozygotes: 0

Latino
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allele count: 15
allele frequency: 1.298251687727194e-3
allele num: 11554
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.995972e6

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 5851
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GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4727
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4941
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 1.997727e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 9.750999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.891e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1