http://identifiers.org/exac.variant/11-70222655-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222655
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3333A>C
  hgvsp: ENSP00000253925.7:p.Glu1111Asp
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1356A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-929T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4015T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3333A>C
  hgvsp: ENSP00000374198.3:p.Glu1111Asp
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1685A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1592A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2094A>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1111Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

11-70222659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222659
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1360G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2098G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4019C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1596G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3337G>T
  hgvsp: ENSP00000374198.3:p.Glu1113Ter
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-933C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1689G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3337G>T
  hgvsp: ENSP00000253925.7:p.Glu1113Ter
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1113Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

11-70222673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222673
    reference: chr 11
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1703T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1374T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3351T>C
  hgvsp: ENST00000253925.7:c.3351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-947A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4033A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1610T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2112T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3351T>C
  hgvsp: ENST00000389547.3:c.3351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1117Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

11-70222678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222678
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222678
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2117T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1379T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1615T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4038A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3356T>C
  hgvsp: ENSP00000253925.7:p.Val1119Ala
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1708T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3356T>C
  hgvsp: ENSP00000374198.3:p.Val1119Ala
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-952A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1119Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-70222680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222680
    reference: chr 11
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1381A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3358A>G
  hgvsp: ENSP00000253925.7:p.Met1120Val
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4040T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3358A>G
  hgvsp: ENSP00000374198.3:p.Met1120Val
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1710A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1617A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2119A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-954T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1120Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

11-70222685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222685
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1622G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3363G>A
  hgvsp: ENST00000389547.3:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2124G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-959C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1715G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4045C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3363G>A
  hgvsp: ENST00000253925.7:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1386G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1121Gly
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: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-70222686-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222686
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222686
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3364A>T
  hgvsp: ENSP00000374198.3:p.Thr1122Ser
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1387A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1716A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-960T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1623A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2125A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3364A>T
  hgvsp: ENSP00000253925.7:p.Thr1122Ser
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4046T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1122Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-70222690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222690
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-964T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1720A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2129A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3368A>G
  hgvsp: ENSP00000253925.7:p.Asp1123Gly
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1627A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3368A>G
  hgvsp: ENSP00000374198.3:p.Asp1123Gly
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1391A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4050T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1123Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

11-70222691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222691
    reference: chr 11
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1628T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1392T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3369T>C
  hgvsp: ENST00000253925.7:c.3369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4051A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2130T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3369T>C
  hgvsp: ENST00000389547.3:c.3369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1721T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-965A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1123Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

11-70222692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222692
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222692
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4052T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1393A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1629A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1722A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2131A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3370A>G
  hgvsp: ENSP00000374198.3:p.Arg1124Gly
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-966T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3370A>G
  hgvsp: ENSP00000253925.7:p.Arg1124Gly
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1124Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-70222697-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222697
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3375G>T
  hgvsp: ENSP00000374198.3:p.Arg1125Ser
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4057C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1634G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3375G>T
  hgvsp: ENSP00000253925.7:p.Arg1125Ser
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1398G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-971C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1727G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2136G>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1125Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-70222716-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222716
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-990A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+10T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4076A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-70222723-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222723
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222723
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4083T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+17A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-997T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-70222724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222724
    reference: chr 11
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+18T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+18T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+18T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4084A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-998A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+18T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+18T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+18T>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49347
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

11-70222726-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222726
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+20T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1000A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4086A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+20T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+20T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+20T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+20T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+20T>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

11-70222731-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222731
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222731
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+25T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+25T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4091A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+25T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+25T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1005A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+25T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+25T>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

11-70222734-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222734
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222735
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4095dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+29dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+29dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1009dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+29dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+29dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+29dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+29dupT
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-70222742-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222742
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+36A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1016T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+36A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4102T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+36A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+36A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+36A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+36A>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-70222745-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222745
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222745
    reference: chr 11
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4105C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+39G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1019C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

11-70222747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222747
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222747
    reference: chr 11
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+41G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+41G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4107C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+41G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1021C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+41G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+41G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+41G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-70222755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222755
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222755
    reference: chr 11
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+49G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+49G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+49G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+49G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1029C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+49G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4115C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+49G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-70222758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70222758
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70222758
    reference: chr 11
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-4118A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3384+52T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1407+52T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3384+52T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-1032A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2145+52T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1736+52T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1643+52T>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-70224092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224092
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224092
    reference: chr 11
allele count: 41
allele frequency: 3.50547195622435e-4
allele num: 116960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2146-44T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3385-44T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5452A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2366A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1737-44T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1408-44T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1644-44T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3385-44T>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

11-70224094-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224095
    reference: chr 11
allele count: 1
allele frequency: 8.553295584788819e-6
allele num: 116914
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1737-36dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5455dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2146-36dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1408-36dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3385-36dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3385-36dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2369dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1644-36dupT
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

11-70224114-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224114
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224114
    reference: chr 11
allele count: 1
allele frequency: 8.463817181548878e-6
allele num: 118150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1644-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3385-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2146-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1737-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1408-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5474A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3385-22T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2388A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

11-70224122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224122
    reference: chr 11
allele count: 3
allele frequency: 2.521135519437955e-5
allele num: 118994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3385-14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1644-14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3385-14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1737-14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5482G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2146-14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2396G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1408-14C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

11-70224136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224136
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224136
    reference: chr 11
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5496C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1737G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2410C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2146G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3385G>A
  hgvsp: ENSP00000374198.3:p.Asp1129Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1644G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3385G>A
  hgvsp: ENSP00000253925.7:p.Asp1129Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1408G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1129Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

11-70224141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224141
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224141
    reference: chr 11
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3390T>C
  hgvsp: ENST00000389547.3:c.3390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3390T>C
  hgvsp: ENST00000253925.7:c.3390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5501A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1649T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2151T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1742T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2415A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1413T>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1130Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

11-70224175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224175
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224175
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3424A>G
  hgvsp: ENSP00000374198.3:p.Lys1142Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5535T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3424A>G
  hgvsp: ENSP00000253925.7:p.Lys1142Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1683A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1776A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2185A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2449T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1447A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys1142Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-70224176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224176
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224176
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3425A>G
  hgvsp: ENSP00000253925.7:p.Lys1142Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3425A>G
  hgvsp: ENSP00000374198.3:p.Lys1142Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2450T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5536T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1684A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2186A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1777A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1448A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1142Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-70224183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224183
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224183
    reference: chr 11
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1455T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1784T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3432T>C
  hgvsp: ENST00000253925.7:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2193T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2457A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3432T>C
  hgvsp: ENST00000389547.3:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1691T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5543A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe1144Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

11-70224184-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224184
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224184
    reference: chr 11
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5544T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3433A>G
  hgvsp: ENSP00000253925.7:p.Arg1145Gly
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.1A>G
  hgvsp: ENST00000528853.1:c.1A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3433A>G
  hgvsp: ENSP00000374198.3:p.Arg1145Gly
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2194A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2458T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1456A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1692A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1785A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1145Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-70224193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224193
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224193
    reference: chr 11
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3442G>A
  hgvsp: ENSP00000374198.3:p.Asp1148Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2203G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2467C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3442G>A
  hgvsp: ENSP00000253925.7:p.Asp1148Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1465G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5553C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.10G>A
  hgvsp: ENSP00000434692.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1794G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1701G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23874
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1148Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

11-70224200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224200
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224200
    reference: chr 11
allele count: 6
allele frequency: 4.942257952916756e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3449G>A
  hgvsp: ENSP00000374198.3:p.Arg1150His
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1801G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3449G>A
  hgvsp: ENSP00000253925.7:p.Arg1150His
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2210G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.17G>A
  hgvsp: ENST00000528853.1:c.17G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5560C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2474C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1708G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1472G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1150His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

11-70224215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224215
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224215
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5575C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2225G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1487G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3464G>A
  hgvsp: ENSP00000374198.3:p.Gly1155Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3464G>A
  hgvsp: ENSP00000253925.7:p.Gly1155Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.32G>A
  hgvsp: ENSP00000434692.1:p.Trp11Ter
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1816G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1723G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2489C>T
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp11Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-70224215-GGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224215
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224212
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2492_392-2490delGAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2226_2228delGTC
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1724_*1726delGTC
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3465_3467delGTC
  hgvsp: ENSP00000253925.7:p.Ser1156del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1817_*1819delGTC
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5578_266-5576delGAC
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.33_35delGTC
  hgvsp: ENSP00000434692.1:p.Val12del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3465_3467delGTC
  hgvsp: ENSP00000374198.3:p.Ser1156del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1488_1490delGTC
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1156del
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: GGTC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-70224216-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224216
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224216
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3465G>T
  hgvsp: ENST00000253925.7:c.3465G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.33G>T
  hgvsp: ENSP00000434692.1:p.Val12Phe
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3465G>T
  hgvsp: ENST00000389547.3:c.3465G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1724G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5576C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2490C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1817G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1488G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2226G>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val12Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-70224236-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224236
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224236
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3485C>A
  hgvsp: ENSP00000374198.3:p.Ala1162Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2246C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.53C>A
  hgvsp: ENSP00000434692.1:p.Cys18Ter
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1744C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2510G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1837C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3485C>A
  hgvsp: ENSP00000253925.7:p.Ala1162Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5596G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1508C>A
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys18Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-70224237-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224237
    reference: chr 11
allele count: 139
allele frequency: 1.14497528830313e-3
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2511T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1838A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2247A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.54A>C
  hgvsp: ENSP00000434692.1:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1509A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1745A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3486A>C
  hgvsp: ENST00000253925.7:c.3486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3486A>C
  hgvsp: ENST00000389547.3:c.3486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5597T>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys19Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-70224244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224244
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224244
    reference: chr 11
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.61C>T
  hgvsp: ENSP00000434692.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2518G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1845C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1752C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3493C>T
  hgvsp: ENSP00000253925.7:p.Arg1165Trp
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1516C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3493C>T
  hgvsp: ENSP00000374198.3:p.Arg1165Trp
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2254C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5604G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1165Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

11-70224247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224247
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224247
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1519G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3496G>A
  hgvsp: ENSP00000253925.7:p.Val1166Met
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3496G>A
  hgvsp: ENSP00000374198.3:p.Val1166Met
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2521C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1848G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2257G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1755G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.64G>A
  hgvsp: ENSP00000434692.1:p.Gly22Asp
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5607C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14048
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1166Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

11-70224248-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224248
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224248
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1756T>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2258T>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1849T>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1520T>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.65T>A
  hgvsp: ENST00000528853.1:c.65T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3497T>A
  hgvsp: ENSP00000253925.7:p.Val1166Glu
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2522A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5608A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3497T>A
  hgvsp: ENSP00000374198.3:p.Val1166Glu
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1166Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

11-70224250-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224250
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224247
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5613_266-5611delAAG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1857_*1859delTCT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1764_*1766delTCT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3505_3507delTCT
  hgvsp: ENSP00000253925.7:p.Ser1169del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.73_75delTCT
  hgvsp: ENSP00000434692.1:p.Phe25del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3505_3507delTCT
  hgvsp: ENSP00000374198.3:p.Ser1169del
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2266_2268delTCT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2527_392-2525delAAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1528_1530delTCT
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1169del
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: ACTT
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-70224267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224267
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224267
    reference: chr 11
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2541G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2277C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1868C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.84C>T
  hgvsp: ENSP00000434692.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3516C>T
  hgvsp: ENST00000389547.3:c.3516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1775C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1539C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5627G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3516C>T
  hgvsp: ENST00000253925.7:c.3516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro29Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-70224270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224270
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224270
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.87C>T
  hgvsp: ENSP00000434692.1:p.Leu30Phe
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3519C>T
  hgvsp: ENST00000389547.3:c.3519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5630G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3519C>T
  hgvsp: ENST00000253925.7:c.3519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2280C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1778C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1542C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2544G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1871C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu30Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-70224272-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224272
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224272
    reference: chr 11
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1780C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2282C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3521C>A
  hgvsp: ENSP00000374198.3:p.Ser1174Tyr
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.89C>A
  hgvsp: ENST00000528853.1:c.89C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3521C>A
  hgvsp: ENSP00000253925.7:p.Ser1174Tyr
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1544C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5632G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2546G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1873C>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13967
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1174Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-70224274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224274
    reference: chr 11
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2284A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.91A>G
  hgvsp: ENSP00000434692.1:p.Tyr31Cys
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5634T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1875A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2548T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1782A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3523A>G
  hgvsp: ENSP00000374198.3:p.Met1175Val
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1546A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3523A>G
  hgvsp: ENSP00000253925.7:p.Met1175Val
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1175Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-70224286-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224286
    reference: chr 11
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.103A>C
  hgvsp: ENSP00000434692.1:p.Glu35Ala
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1887A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5646T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1794A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2296A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2560T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3535A>C
  hgvsp: ENSP00000253925.7:p.Lys1179Gln
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1558A>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3535A>C
  hgvsp: ENSP00000374198.3:p.Lys1179Gln
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1179Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-70224287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224287
    reference: chr 11
allele count: 27
allele frequency: 2.227906592953214e-4
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5647T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3536A>G
  hgvsp: ENSP00000374198.3:p.Lys1179Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1888A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1559A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1795A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3536A>G
  hgvsp: ENSP00000253925.7:p.Lys1179Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.104A>G
  hgvsp: ENST00000528853.1:c.104A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2561T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2297A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1179Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

11-70224288-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224288
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224288
    reference: chr 11
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3537G>T
  hgvsp: ENSP00000253925.7:p.Lys1179Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2562C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1889G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5648C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1560G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1796G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.105G>T
  hgvsp: ENSP00000434692.1:p.Asp36Tyr
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3537G>T
  hgvsp: ENSP00000374198.3:p.Lys1179Asn
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2298G>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1179Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

11-70224293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224293
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224293
    reference: chr 11
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1894A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.110A>G
  hgvsp: ENST00000528853.1:c.110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3542A>G
  hgvsp: ENSP00000253925.7:p.Gln1181Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2303A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3542A>G
  hgvsp: ENSP00000374198.3:p.Gln1181Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5653T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1565A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2567T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1801A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln1181Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-70224297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224297
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224297
    reference: chr 11
allele count: 4
allele frequency: 3.305511941161887e-5
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1805G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3546G>A
  hgvsp: ENSP00000374198.3:p.Met1182Ile
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5657C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.114G>A
  hgvsp: ENSP00000434692.1:p.Gly39Arg
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1569G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2307G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3546G>A
  hgvsp: ENSP00000253925.7:p.Met1182Ile
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2571C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1898G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met1182Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-70224300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224300
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224300
    reference: chr 11
allele count: 10
allele frequency: 8.268836409340478e-5
allele num: 120936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3549C>T
  hgvsp: ENST00000253925.7:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2310C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1808C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2574G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1901C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.117C>T
  hgvsp: ENSP00000434692.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.3549C>T
  hgvsp: ENST00000389547.3:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5660G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1572C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg40Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-70224311-G-GGGTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224311
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224316
    reference: chr 11
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: GGGTCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+11_118+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+11_1573+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+11_2311+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*3_*7dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+11_*1902+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+11_*1809+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2590_392-2586dupTGACC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+11_3550+15dupGGTCA
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5676_266-5672dupTGACC
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/11-70224317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224317
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224317
    reference: chr 11
allele count: 2
allele frequency: 1.659420530350801e-5
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5677G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+16C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2591G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*8C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+16C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+16C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+16C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+16C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+16C>A
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

11-70224318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224318
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224318
    reference: chr 11
allele count: 191
allele frequency: 1.584825503244329e-3
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2592T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+17A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+17A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5678T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*9A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+17A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+17A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+17A>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+17A>G
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-70224323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224323
    reference: chr 11
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+22C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*14C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2597G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5683G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+22C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+22C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+22C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+22C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+22C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-70224324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224324
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224324
    reference: chr 11
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5684G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+23C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+23C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+23C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+23C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2598G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+23C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+23C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11647
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

11-70224326-GTCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224322
    reference: chr 11
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+27_1573+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+27_3550+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+27_*1902+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5690_266-5687delGTGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*19_*22delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+27_2311+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+27_*1809+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+27_118+30delCACT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2604_392-2601delGTGA
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GTCAC
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-70224329-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224329
    reference: chr 11
allele count: 2
allele frequency: 1.663561352142667e-5
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2603T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+28A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+28A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+28A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+28A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5689T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*20A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+28A>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+28A>T
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-70224332-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224332
    reference: chr 11
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*23T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5692A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+31T>G
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2606A>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-70224334-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224334
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224334
    reference: chr 11
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+33T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5694A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+33T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+33T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+33T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+33T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*25T>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2608A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+33T>C
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-70224337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224337
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224337
    reference: chr 11
allele count: 26
allele frequency: 2.165800346528055e-4
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5697C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+36G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2611C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+36G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*28G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+36G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+36G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+36G>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+36G>A
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-70224358-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224358
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224358
    reference: chr 11
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+57C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+57C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+57C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*49C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5718G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+57C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+57C>A
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2632G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+57C>A
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

11-70224358-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70224358
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70224357
    reference: chr 11
allele count: 3
allele frequency: 2.520034272466106e-5
allele num: 119046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1573+58delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.118+58delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-2633delA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000374198
  ensembl transcript: ENST00000389547
  gene symbol: PPFIA1
  hgvsc: ENST00000389547.3:c.*50delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3550+58delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-5719delA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1902+58delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1809+58delT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2311+58delT
  variant of: http://identifiers.org/hgnc/9245
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CT
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

11-70228145-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70228145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70228146
    reference: chr 11
allele count: 1
allele frequency: 8.827527762574813e-6
allele num: 113282
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3551-48dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1574-48dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2312-48dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000524619
  gene symbol: AP000487.5
  hgvsc: ENST00000524619.1:n.206-763dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1903-48dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-9506dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.119-963dupT
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-6420dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1810-48dupT
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-70228151-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70228151
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70228151
    reference: chr 11
allele count: 2
allele frequency: 1.762176640586453e-5
allele num: 113496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1810-43G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.119-958G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3551-43G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1903-43G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-6425C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1574-43G>C
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-9511C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000524619
  gene symbol: AP000487.5
  hgvsc: ENST00000524619.1:n.206-768C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2312-43G>C
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-70228151-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70228151
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70228151
    reference: chr 11
allele count: 1
allele frequency: 8.810883202932263e-6
allele num: 113496
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-6425C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1574-43G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-9511C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000524619
  gene symbol: AP000487.5
  hgvsc: ENST00000524619.1:n.206-768C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2312-43G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3551-43G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.119-958G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1903-43G>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1810-43G>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

11-70228152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70228152
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70228152
    reference: chr 11
allele count: 2
allele frequency: 1.760718373096223e-5
allele num: 113590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-9512G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000524619
  gene symbol: AP000487.5
  hgvsc: ENST00000524619.1:n.206-769G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1903-42C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3551-42C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-6426G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1810-42C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2312-42C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.119-957C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1574-42C>T
  variant of: http://identifiers.org/hgnc/9245
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23734
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

11-70228154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70228154
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70228154
    reference: chr 11
allele count: 2
allele frequency: 1.758984010835342e-5
allele num: 113702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000433619
  ensembl transcript: ENST00000532504
  gene symbol: PPFIA1
  hgvsc: ENST00000532504.1:c.*1810-40C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000435752
  ensembl transcript: ENST00000526262
  gene symbol: PPFIA1
  hgvsc: ENST00000526262.1:c.*1903-40C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000530548
  gene symbol: PPFIA1
  hgvsc: ENST00000530548.1:n.2312-40C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000434692
  ensembl transcript: ENST00000528853
  gene symbol: PPFIA1
  hgvsc: ENST00000528853.1:c.119-955C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000530690
  gene symbol: AP000487.5
  hgvsc: ENST00000530690.1:n.266-9514G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl protein: ENSP00000253925
  ensembl transcript: ENST00000253925
  gene symbol: PPFIA1
  hgvsc: ENST00000253925.7:c.3551-40C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000500185
  gene symbol: AP000487.5
  hgvsc: ENST00000500185.2:n.392-6428G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131626
  ensembl transcript: ENST00000531657
  gene symbol: PPFIA1
  hgvsc: ENST00000531657.1:n.1574-40C>T
  variant of: http://identifiers.org/hgnc/9245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246889
  ensembl transcript: ENST00000524619
  gene symbol: AP000487.5
  hgvsc: ENST00000524619.1:n.206-771G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22279
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ

GenotypeQuality
all individuals: 49352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.830139e6

FS
type: SiteQuality
SIO_000300: 2.767e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

Other
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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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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

East Asian
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South Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
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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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East Asian
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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

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
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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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num of homozygotes: 0

VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Other
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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: 1.498576352465158e-5
allele num: 66730
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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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
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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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variant carriers: 0

East Asian
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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: 0.0e0
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Other
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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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African
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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: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: 3.65e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

African
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East Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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FS
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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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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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 (Finnish)
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European (Non-Finnish)
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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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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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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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variant carriers: 0

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

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

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.703e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

QD
type: SiteQuality
SIO_000300: 1.592e1

DP
type: SiteQuality
SIO_000300: 3.826885e6

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49326
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

MQ
type: SiteQuality
SIO_000300: 4.689e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.618e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 3.824003e6

GenotypeQuality
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49324
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.823962e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4090
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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: 2467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23850
bin: 9.75e1
variant carriers: 39

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 3.826016915022151e-3
allele num: 9932
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 2.190677e6

FS
type: SiteQuality
SIO_000300: 1.264e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
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variant carriers: 0

GenotypeQuality
all individuals: 4269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 533
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GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 4251
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variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525041176111755e-5
allele num: 65572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.277e0

MQ
type: SiteQuality
SIO_000300: 6.004e1

FS
type: SiteQuality
SIO_000300: 2.873e0

DP
type: SiteQuality
SIO_000300: 2.194144e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

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

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 4553
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variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515932450050026e-5
allele num: 65966
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.230441e6

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e0

QD
type: SiteQuality
SIO_000300: 1.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 4333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23867
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 2551
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variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022243713733075e-5
allele num: 66176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.932459276916965e-5
allele num: 10068
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 2.245245e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 6.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.132e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 13288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23870
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4342
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 3.436e0

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 2.262782e6

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 4340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
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GenotypeQuality
all individuals: 23871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 5.25e1
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GenotypeQuality
all individuals: 4344
bin: 7.75e1
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GenotypeQuality
all individuals: 4150
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.474e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.055e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

DP
type: SiteQuality
SIO_000300: 2.26584e6

QD
type: SiteQuality
SIO_000300: 9.82e0

GenotypeQuality
all individuals: 14015
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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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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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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DP
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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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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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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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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Latino
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European (Non-Finnish)
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European (Finnish)
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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MQ
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BaseQRankSum
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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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Other
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East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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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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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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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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European (Non-Finnish)
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East Asian
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Other
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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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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South Asian
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East Asian
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African
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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South Asian
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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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DP
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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European (Non-Finnish)
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VQSLOD
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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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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 2.275746e6

VQSLOD
type: SiteQuality
SIO_000300: -3.614e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 2
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 138

Latino
type: Population
allele count: 7
allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 131
allele frequency: 1.259131103421761e-2
allele num: 10404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 2.287845e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-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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variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 2.446e0

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.277043e6

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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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.303e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 2.888e0

DP
type: SiteQuality
SIO_000300: 2.276875e6

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.303e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.364e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 2.276784e6

FS
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.891e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 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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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.13e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.773e1

FS
type: SiteQuality
SIO_000300: 1.792e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.276814e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 2.276291e6

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

QD
type: SiteQuality
SIO_000300: 1.262e1

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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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
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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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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
all individuals: 4147
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Latino
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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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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South Asian
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allele num: 16426
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 7.144e0

VQSLOD
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SIO_000300: -2.05e-2

MQ
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 27
allele frequency: 1.646341463414634e-3
allele num: 16400
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
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SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 2.274353e6

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

FS
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
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MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.272799e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.715e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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 count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
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African
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allele num: 10388
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele frequency: 3.003995313767311e-5
allele num: 66578
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African
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East Asian
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South Asian
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allele num: 16300
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MQRankSum
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FS
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QD
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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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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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66560
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Latino
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African
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Other
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East Asian
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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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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South Asian
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allele count: 0
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African
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East Asian
type: Population
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Other
type: Population
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Latino
type: Population
allele count: 0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.173e1

FS
type: SiteQuality
SIO_000300: 8.737e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

DP
type: SiteQuality
SIO_000300: 2.261283e6

MQRankSum
type: SiteQuality
SIO_000300: -6.881e0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23893
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

FS
type: SiteQuality
SIO_000300: 1.0326e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.256828e6

GenotypeQuality
all individuals: 23990
bin: 9.75e1
variant carriers: 190

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

GenotypeQuality
all individuals: 1024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.263309532757109e-5
allele num: 15966
num of homozygotes: 0

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

East Asian
type: Population
allele count: 189
allele frequency: 2.185981956974323e-2
allele num: 8646
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 2.269303e6

QD
type: SiteQuality
SIO_000300: 1.38e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23938
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.294850812035755e-5
allele num: 15886
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.41e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

FS
type: SiteQuality
SIO_000300: 5.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 2.254327e6

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2545
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
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: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.305170239596469e-5
allele num: 15860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

DP
type: SiteQuality
SIO_000300: 2.253134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 5.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.775e0

GenotypeQuality
all individuals: 4558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 11366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23939
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 2.250154e6

FS
type: SiteQuality
SIO_000300: 2.596e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.488e1

MQ
type: SiteQuality
SIO_000300: 5.697e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

GenotypeQuality
all individuals: 11030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23939
bin: 9.75e1
variant carriers: 2

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
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: 8650
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: 15790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 5.518e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 2.246754e6

GenotypeQuality
all individuals: 4279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 43
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variant carriers: 0

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

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.527e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

MQ
type: SiteQuality
SIO_000300: 5.731e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.243954e6

QD
type: SiteQuality
SIO_000300: 1.764e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1604
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10608
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

DP
type: SiteQuality
SIO_000300: 2.24144e6

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23945
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 4128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.007866728366497e-3
allele num: 8644
num of homozygotes: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 2.239053e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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

GenotypeQuality
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bin: 6.75e1
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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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bin: 1.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

DP
type: SiteQuality
SIO_000300: 2.216303e6

MQ
type: SiteQuality
SIO_000300: 6.063e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

QD
type: SiteQuality
SIO_000300: 1.671e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.733e0

DP
type: SiteQuality
SIO_000300: 2.216303e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

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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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592508838424053e-5
allele num: 62794
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.300062e6

QD
type: SiteQuality
SIO_000300: 7.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.321353065539112e-4
allele num: 15136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.327941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.045369015262388e-4
allele num: 9566
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Other
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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: 0
allele frequency: 0.0e0
allele num: 62898
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Latino
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East Asian
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South Asian
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allele frequency: 1.322051824431518e-4
allele num: 15128
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62958
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.334881e6

InbreedingCoeff
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SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 1
allele frequency: 9.384384384384384e-5
allele num: 10656
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9562
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63034
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 852
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East Asian
type: Population
allele count: 1
allele frequency: 1.203659123736158e-4
allele num: 8308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1