11-67263819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67263819
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67263819
    reference: chr 11
allele count: 3
allele frequency: 2.528999190720259e-5
allele num: 118624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000398787
  ensembl transcript: ENST00000436757
  gene symbol: PITPNM1
  hgvsc: ENST00000436757.2:c.2147-3C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000437286
  ensembl transcript: ENST00000534749
  gene symbol: PITPNM1
  hgvsc: ENST00000534749.1:c.2147C>T
  hgvsp: ENSP00000437286.1:p.Ala716Val
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000526602
  gene symbol: PITPNM1
  hgvsc: ENST00000526602.1:n.92C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000348772
  ensembl transcript: ENST00000356404
  gene symbol: PITPNM1
  hgvsc: ENST00000356404.3:c.2147C>T
  hgvsp: ENSP00000348772.3:p.Ala716Val
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000527370
  gene symbol: PITPNM1
  hgvsc: ENST00000527370.1:n.1860C>T
  variant of: http://identifiers.org/hgnc/9003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala716Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

11-67263823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67263823
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67263823
    reference: chr 11
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000398787
  ensembl transcript: ENST00000436757
  gene symbol: PITPNM1
  hgvsc: ENST00000436757.2:c.2147-7C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000437286
  ensembl transcript: ENST00000534749
  gene symbol: PITPNM1
  hgvsc: ENST00000534749.1:c.2147-4C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000527370
  gene symbol: PITPNM1
  hgvsc: ENST00000527370.1:n.1856C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000348772
  ensembl transcript: ENST00000356404
  gene symbol: PITPNM1
  hgvsc: ENST00000356404.3:c.2147-4C>T
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000526602
  gene symbol: PITPNM1
  hgvsc: ENST00000526602.1:n.88C>T
  variant of: http://identifiers.org/hgnc/9003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25873
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2147-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-67263825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67263825
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67263825
    reference: chr 11
allele count: 1
allele frequency: 8.442950980226608e-6
allele num: 118442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000437286
  ensembl transcript: ENST00000534749
  gene symbol: PITPNM1
  hgvsc: ENST00000534749.1:c.2147-6T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000527370
  gene symbol: PITPNM1
  hgvsc: ENST00000527370.1:n.1854T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000398787
  ensembl transcript: ENST00000436757
  gene symbol: PITPNM1
  hgvsc: ENST00000436757.2:c.2147-9T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000526602
  gene symbol: PITPNM1
  hgvsc: ENST00000526602.1:n.86T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000348772
  ensembl transcript: ENST00000356404
  gene symbol: PITPNM1
  hgvsc: ENST00000356404.3:c.2147-6T>C
  variant of: http://identifiers.org/hgnc/9003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2147-6T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

11-67263834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67263834
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67263834
    reference: chr 11
allele count: 4
allele frequency: 3.384152016108564e-5
allele num: 118198
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000348772
  ensembl transcript: ENST00000356404
  gene symbol: PITPNM1
  hgvsc: ENST00000356404.3:c.2147-15T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000526602
  gene symbol: PITPNM1
  hgvsc: ENST00000526602.1:n.77T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000398787
  ensembl transcript: ENST00000436757
  gene symbol: PITPNM1
  hgvsc: ENST00000436757.2:c.2147-18T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000437286
  ensembl transcript: ENST00000534749
  gene symbol: PITPNM1
  hgvsc: ENST00000534749.1:c.2147-15T>C
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000527370
  gene symbol: PITPNM1
  hgvsc: ENST00000527370.1:n.1845T>C
  variant of: http://identifiers.org/hgnc/9003
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

11-67263845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67263845
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67263845
    reference: chr 11
allele count: 64
allele frequency: 5.431738326006144e-4
allele num: 117826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000398787
  ensembl transcript: ENST00000436757
  gene symbol: PITPNM1
  hgvsc: ENST00000436757.2:c.2147-29A>G
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000527370
  gene symbol: PITPNM1
  hgvsc: ENST00000527370.1:n.1834A>G
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110697
  ensembl transcript: ENST00000526602
  gene symbol: PITPNM1
  hgvsc: ENST00000526602.1:n.66A>G
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000348772
  ensembl transcript: ENST00000356404
  gene symbol: PITPNM1
  hgvsc: ENST00000356404.3:c.2147-26A>G
  variant of: http://identifiers.org/hgnc/9003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110697
  ensembl protein: ENSP00000437286
  ensembl transcript: ENST00000534749
  gene symbol: PITPNM1
  hgvsc: ENST00000534749.1:c.2147-26A>G
  variant of: http://identifiers.org/hgnc/9003
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19802
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9155
  bin: 9.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-52284978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284978
    reference: chr 12
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1248G>A
  hgvsp: ENST00000301190.6:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.455G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1485G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1260G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*537G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.673G>A
  hgvsp: ENSP00000344690.4:p.Glu225Lys
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.466G>A
  hgvsp: ENSP00000443722.1:p.Glu156Lys
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2856G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu225Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-52284982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284982
    reference: chr 12
allele count: 8
allele frequency: 6.597285217133149e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1264C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2860C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1252C>T
  hgvsp: ENSP00000301190.6:p.Pro418Ser
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.677C>T
  hgvsp: ENSP00000344690.4:p.Ala226Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1489C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*541C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.470C>T
  hgvsp: ENSP00000443722.1:p.Ala157Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.459C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro418Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-52284987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284987
    reference: chr 12
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.464T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.682T>C
  hgvsp: ENSP00000344690.4:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.475T>C
  hgvsp: ENSP00000443722.1:p.Ser159Pro
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1494T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2865T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1257T>C
  hgvsp: ENST00000301190.6:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1269T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*546T>C
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  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: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser228Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-52284995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284995
    reference: chr 12
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.483G>A
  hgvsp: ENST00000538991.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.472G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2873G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*554G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1265G>A
  hgvsp: ENSP00000301190.6:p.Gly422Glu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.690G>A
  hgvsp: ENST00000340970.4:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1502G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1277G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly422Glu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-52284995-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284995
    reference: chr 12
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2873G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.690G>T
  hgvsp: ENSP00000344690.4:p.Arg230Ser
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.472G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1265G>T
  hgvsp: ENSP00000301190.6:p.Gly422Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1502G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*554G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1277G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.483G>T
  hgvsp: ENSP00000443722.1:p.Arg161Ser
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly422Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

12-52284998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52284998
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52284998
    reference: chr 12
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.475A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.693A>G
  hgvsp: ENST00000340970.4:c.693A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1280A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*557A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.486A>G
  hgvsp: ENST00000538991.1:c.486A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2876A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1268A>G
  hgvsp: ENSP00000301190.6:p.His423Arg
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1505A>G
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His423Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-52285016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285016
    reference: chr 12
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.504C>T
  hgvsp: ENST00000538991.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.711C>T
  hgvsp: ENST00000340970.4:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2894C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1286C>T
  hgvsp: ENSP00000301190.6:p.Pro429Leu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1298C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*575C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.493C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1523C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45608
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro429Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-52285024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285024
    reference: chr 12
allele count: 13
allele frequency: 1.078802363407024e-4
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.501C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.719C>T
  hgvsp: ENSP00000344690.4:p.Ala240Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1531C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2902C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.512C>T
  hgvsp: ENSP00000443722.1:p.Ala171Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*583C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1294C>T
  hgvsp: ENSP00000301190.6:p.Arg432Ter
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1306C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24977
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg432Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-52285030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285030
    reference: chr 12
allele count: 1
allele frequency: 8.323899580475461e-6
allele num: 120136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1300C>T
  hgvsp: ENSP00000301190.6:p.Gln434Ter
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.507C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.518C>T
  hgvsp: ENSP00000443722.1:p.Pro173Leu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*589C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2908C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1312C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.725C>T
  hgvsp: ENSP00000344690.4:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1537C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44046
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln434Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-52285036-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285036
    reference: chr 12
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2914C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*595C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1543C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1318C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.731C>A
  hgvsp: ENSP00000344690.4:p.Ala244Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.524C>A
  hgvsp: ENSP00000443722.1:p.Ala175Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1306C>A
  hgvsp: ENSP00000301190.6:p.Leu436Ile
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.513C>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu436Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-52285039-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285039
    reference: chr 12
allele count: 3
allele frequency: 2.506181915391298e-5
allele num: 119704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.734A>C
  hgvsp: ENSP00000344690.4:p.Gln245Pro
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1546A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1321A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2917A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1309A>C
  hgvsp: ENST00000301190.6:c.1309A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.527A>C
  hgvsp: ENSP00000443722.1:p.Gln176Pro
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*598A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.516A>C
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln245Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

12-52285043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285043
    reference: chr 12
allele count: 3
allele frequency: 2.509914160935696e-5
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2921T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.531T>C
  hgvsp: ENST00000538991.1:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1550T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1325T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.738T>C
  hgvsp: ENST00000340970.4:c.738T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1313T>C
  hgvsp: ENSP00000301190.6:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.520T>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*602T>C
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile438Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-52285049-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285049
    reference: chr 12
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.526A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.537A>C
  hgvsp: ENSP00000443722.1:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*608A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1556A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.744A>C
  hgvsp: ENSP00000344690.4:p.Glu248Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1319A>C
  hgvsp: ENSP00000301190.6:p.Lys440Thr
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2927A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1331A>C
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys440Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-52285050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285050
    reference: chr 12
allele count: 1
allele frequency: 8.436825053995681e-6
allele num: 118528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.538G>A
  hgvsp: ENSP00000443722.1:p.Glu180Lys
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1320G>A
  hgvsp: ENST00000301190.6:c.1320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.745G>A
  hgvsp: ENSP00000344690.4:p.Glu249Lys
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*609G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.527G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1332G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2928G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1557G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu249Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-52285052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285052
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285052
    reference: chr 12
allele count: 281
allele frequency: 2.370947872896944e-3
allele num: 118518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1334G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*611G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.540G>A
  hgvsp: ENST00000538991.1:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.529G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1559G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2930G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.747G>A
  hgvsp: ENST00000340970.4:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1322G>A
  hgvsp: ENSP00000301190.6:p.Arg441Lys
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 23036
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg441Lys
num of homozygotes: 2
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-52285057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285057
    reference: chr 12
allele count: 1
allele frequency: 8.456230550669733e-6
allele num: 118256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1339C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.534C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1564C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.752C>T
  hgvsp: ENSP00000344690.4:p.Thr251Ile
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2935C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.545C>T
  hgvsp: ENSP00000443722.1:p.Thr182Ile
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*616C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1327C>T
  hgvsp: ENSP00000301190.6:p.Gln443Ter
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln443Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-52285068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285068
    reference: chr 12
allele count: 1
allele frequency: 8.597860852219967e-6
allele num: 116308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1575G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.763G>A
  hgvsp: ENSP00000344690.4:p.Gly255Ser
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*627G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.556G>A
  hgvsp: ENSP00000443722.1:p.Gly186Ser
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2946G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.545G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1338G>A
  hgvsp: ENST00000301190.6:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1350G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly255Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-52285071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285071
    reference: chr 12
allele count: 1
allele frequency: 8.692779777117127e-6
allele num: 115038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2949C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1578C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*630C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.559C>T
  hgvsp: ENSP00000443722.1:p.Gln187Ter
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1341C>T
  hgvsp: ENST00000301190.6:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.766C>T
  hgvsp: ENSP00000344690.4:p.Gln256Ter
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1353C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.548C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln256Ter
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

12-52285072-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285072
    reference: chr 12
allele count: 1
allele frequency: 8.691419830343484e-6
allele num: 115056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*631A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.767A>G
  hgvsp: ENSP00000344690.4:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2950A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1342A>G
  hgvsp: ENSP00000301190.6:p.Arg448Gly
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1354A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.560A>G
  hgvsp: ENSP00000443722.1:p.Gln187Arg
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1579A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.549A>G
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg448Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

12-52285074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285074
    reference: chr 12
allele count: 1
allele frequency: 8.693233187287017e-6
allele num: 115032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1581A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.562A>G
  hgvsp: ENSP00000443722.1:p.Asn188Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2952A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.551A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.769A>G
  hgvsp: ENSP00000344690.4:p.Asn257Asp
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1344A>G
  hgvsp: ENST00000301190.6:c.1344A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*633A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1356A>G
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn257Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-52285079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285079
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285079
    reference: chr 12
allele count: 1
allele frequency: 8.779477094344261e-6
allele num: 113902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.774C>T
  hgvsp: ENST00000340970.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1349C>T
  hgvsp: ENSP00000301190.6:p.Ala450Val
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1361C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*638C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.556C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.567C>T
  hgvsp: ENST00000538991.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2957C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1586C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala450Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-52285084-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285084
    reference: chr 12
allele count: 1
allele frequency: 8.958646885974342e-6
allele num: 111624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1591A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.572A>C
  hgvsp: ENSP00000443722.1:p.Glu191Ala
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1354A>C
  hgvsp: ENSP00000301190.6:p.Lys452Gln
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*643A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.779A>C
  hgvsp: ENSP00000344690.4:p.Glu260Ala
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1366A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2962A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.561A>C
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18434
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys452Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-52285086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285086
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285086
    reference: chr 12
allele count: 22659
allele frequency: 2.043081528501614e-1
allele num: 110906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*645G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1593G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.563G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1368G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2964G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.781G>A
  hgvsp: ENSP00000344690.4:p.Val261Ile
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.574G>A
  hgvsp: ENSP00000443722.1:p.Val192Ile
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.1356G>A
  hgvsp: ENST00000301190.6:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 1.75e1
  variant carriers: 2854
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 1.25e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 355
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 3.25e1
  variant carriers: 2967
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 2.75e1
  variant carriers: 3940
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.25e1
  variant carriers: 4132
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 527
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 1971
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.25e1
  variant carriers: 1334
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 181
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 90
hgvs: p.Val261Ile
num of homozygotes: 2223
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-52285090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285090
    reference: chr 12
allele count: 2028
allele frequency: 1.993982655890508e-2
allele num: 101706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1372G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.567G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.785G>A
  hgvsp: ENSP00000344690.4:p.Gly262Glu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.578G>A
  hgvsp: ENSP00000443722.1:p.Gly193Glu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*649G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*1G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1597G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2968G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 1.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18771
  bin: 2.75e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14724
  bin: 2.25e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 2
hgvs: p.Gly262Glu
num of homozygotes: 39
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-52285099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285099
    reference: chr 12
allele count: 1
allele frequency: 1.09072664208896e-5
allele num: 91682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.587G>A
  hgvsp: ENSP00000443722.1:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2977G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*658G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.794G>A
  hgvsp: ENSP00000344690.4:p.Gly265Glu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1381G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*10G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1606G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.576G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly265Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-52285100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285100
    reference: chr 12
allele count: 1
allele frequency: 1.09158388822181e-5
allele num: 91610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.577G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.588G>A
  hgvsp: ENST00000538991.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*659G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.795G>A
  hgvsp: ENST00000340970.4:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2978G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*11G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1607G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1382G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly265Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-52285101-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285101
    reference: chr 12
allele count: 38
allele frequency: 4.15155355504086e-4
allele num: 91532
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*12A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*660A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.589A>C
  hgvsp: ENSP00000443722.1:p.Ile197Leu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.578A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.796A>C
  hgvsp: ENSP00000344690.4:p.Ile266Leu
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2979A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1383A>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1608A>C
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15115
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile266Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

12-52285103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285103
    reference: chr 12
allele count: 3
allele frequency: 3.353753968608863e-5
allele num: 89452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2981A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1385A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*662A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.591A>G
  hgvsp: ENSP00000443722.1:p.Ile197Met
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1610A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.798A>G
  hgvsp: ENSP00000344690.4:p.Ile266Met
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*14A>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.580A>G
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile266Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

12-52285111-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285111
    reference: chr 12
allele count: 48
allele frequency: 5.907837731390311e-4
allele num: 81248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.599C>G
  hgvsp: ENSP00000443722.1:p.Ala200Gly
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.2989C>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.806C>G
  hgvsp: ENSP00000344690.4:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.588C>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*22C>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*670C>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1393C>G
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1618C>G
  variant of: http://identifiers.org/hgnc/13788
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19348
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33264
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala269Gly
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-52285129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285129
    reference: chr 12
allele count: 32
allele frequency: 5.516100117217127e-4
allele num: 58012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*5G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1411G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3007G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.606G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000443722
  ensembl transcript: ENST00000538991
  gene symbol: ANKRD33
  hgvsc: ENST00000538991.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000448116
  ensembl transcript: ENST00000549751
  gene symbol: ANKRD33
  hgvsc: ENST00000549751.1:c.*688G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548383
  gene symbol: ANKRD33
  hgvsc: ENST00000548383.1:n.1636G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*40G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23736
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22060
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-52285140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285140
    reference: chr 12
allele count: 1
allele frequency: 2.197898808738846e-5
allele num: 45498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*16G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*51G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1422G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.617G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3018G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25009
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-52285141-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285141
    reference: chr 12
allele count: 1
allele frequency: 2.24901043540842e-5
allele num: 44464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3019G>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*17G>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1423G>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*52G>C
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.618G>C
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-52285156-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285156
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285156
    reference: chr 12
allele count: 4
allele frequency: 1.339136257114161e-4
allele num: 29870
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*67G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.633G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3034G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*32G>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1438G>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24605
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19417
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20415
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-52285162-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285162
    reference: chr 12
allele count: 3
allele frequency: 1.469435736677116e-4
allele num: 20416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1444C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*73C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.639C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3040C>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*38C>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26875
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20974
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-52285162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285162
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*38C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.639C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3040C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*73C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1444C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 20974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26875
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-52285166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285166
    reference: chr 12
allele count: 165
allele frequency: 8.788750399488655e-3
allele num: 18774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3044C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1448C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*77C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.643C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*42C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 1.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27475
  bin: 7.5e0
  variant carriers: 239
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.75e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21020
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14377
  bin: 2.25e1
  variant carriers: 17
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-52285167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285167
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*43G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1449G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.644G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*78G>A
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3045G>A
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-52285173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52285173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52285173
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16500
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000301190
  ensembl transcript: ENST00000301190
  gene symbol: ANKRD33
  hgvsc: ENST00000301190.6:c.*84C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000550652
  gene symbol: ANKRD33
  hgvsc: ENST00000550652.1:n.650C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000547119
  gene symbol: ANKRD33
  hgvsc: ENST00000547119.1:n.1455C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167612
  ensembl protein: ENSP00000344690
  ensembl transcript: ENST00000340970
  gene symbol: ANKRD33
  hgvsc: ENST00000340970.4:c.*49C>T
  variant of: http://identifiers.org/hgnc/13788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167612
  ensembl transcript: ENST00000548526
  gene symbol: ANKRD33
  hgvsc: ENST00000548526.1:n.3051C>T
  variant of: http://identifiers.org/hgnc/13788
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-52306170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306170
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306170
    reference: chr 12
allele count: 28
allele frequency: 2.983547864632171e-4
allele num: 93848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-84A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-84A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-47A>G
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-52306174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306174
    reference: chr 12
allele count: 1
allele frequency: 1.062925170068027e-5
allele num: 94080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-80C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-43C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-80C>T
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 7842
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-52306178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306178
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306178
    reference: chr 12
allele count: 1
allele frequency: 1.054385187996879e-5
allele num: 94842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-39T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-76T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-39T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-39T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-76T>C
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18478
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

12-52306183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306183
    reference: chr 12
allele count: 26
allele frequency: 2.697543160690571e-4
allele num: 96384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-71A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-71A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-34A>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17202
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 9.75e1
  variant carriers: 23
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-52306202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306202
    reference: chr 12
allele count: 4
allele frequency: 3.806478626622512e-5
allele num: 105084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-52C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-15C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-52C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-52306203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306203
    reference: chr 12
allele count: 2
allele frequency: 1.872238448288774e-5
allele num: 106824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-51G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-51G>A
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30108
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-52306207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306207
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306207
    reference: chr 12
allele count: 1
allele frequency: 9.010632546404758e-6
allele num: 110980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-47G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-47G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-52306217-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306217
    reference: chr 12
allele count: 2
allele frequency: 1.742676402418835e-5
allele num: 114766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.1A>C
  hgvsp: ENSP00000447884.1:p.Met1?
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-37A>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-37A>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.1A>C
  hgvsp: ENSP00000392492.2:p.Met1?
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.1A>C
  hgvsp: ENSP00000446724.1:p.Met1?
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-52306219-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306219
    reference: chr 12
allele count: 9
allele frequency: 7.798014105741072e-5
allele num: 115414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.3G>C
  hgvsp: ENSP00000447884.1:p.Met1?
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.3G>C
  hgvsp: ENSP00000392492.2:p.Met1?
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-35G>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.3G>C
  hgvsp: ENSP00000446724.1:p.Met1?
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-35G>C
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-52306221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306221
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306221
    reference: chr 12
allele count: 10026
allele frequency: 8.605122219170558e-2
allele num: 116512
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.5C>T
  hgvsp: ENSP00000392492.2:p.Ala2Val
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.5C>T
  hgvsp: ENSP00000447884.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-33C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.5C>T
  hgvsp: ENSP00000446724.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-33C>T
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.75e1
  variant carriers: 1232
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 1454
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 1479
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 31313
  bin: 2.25e1
  variant carriers: 854
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 4.25e1
  variant carriers: 1191
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 741
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.75e1
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13565
  bin: 9.75e1
  variant carriers: 9328
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 34943
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 15
hgvs: p.Ala2Val
num of homozygotes: 442
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-52306223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306223
    reference: chr 12
allele count: 5
allele frequency: 4.268542548832127e-5
allele num: 117136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.7C>T
  hgvsp: ENSP00000392492.2:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-31C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.7C>T
  hgvsp: ENSP00000447884.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-31C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.7C>T
  hgvsp: ENSP00000446724.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu3Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-52306225-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306225
    reference: chr 12
allele count: 1
allele frequency: 8.506005239699228e-6
allele num: 117564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-29T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-29T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.9T>C
  hgvsp: ENST00000550683.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.9T>C
  hgvsp: ENST00000419526.2:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.9T>C
  hgvsp: ENST00000547400.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu3Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-52306227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306227
    reference: chr 12
allele count: 30
allele frequency: 2.543925106844855e-4
allele num: 117928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.11C>T
  hgvsp: ENSP00000447884.1:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.11C>T
  hgvsp: ENSP00000392492.2:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.11C>T
  hgvsp: ENSP00000446724.1:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-27C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-27C>T
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33403
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr4Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-52306229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306229
    reference: chr 12
allele count: 1
allele frequency: 8.452085129401424e-6
allele num: 118314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.13C>A
  hgvsp: ENSP00000446724.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-25C>A
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.13C>A
  hgvsp: ENSP00000447884.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.13C>A
  hgvsp: ENSP00000392492.2:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-25C>A
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro5Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

12-52306229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306229
    reference: chr 12
allele count: 6
allele frequency: 5.071251077640854e-5
allele num: 118314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.13C>T
  hgvsp: ENSP00000446724.1:p.Pro5Ser
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.13C>T
  hgvsp: ENSP00000447884.1:p.Pro5Ser
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-25C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-25C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.13C>T
  hgvsp: ENSP00000392492.2:p.Pro5Ser
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro5Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

12-52306232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306232
    reference: chr 12
allele count: 1
allele frequency: 8.414675193537529e-6
allele num: 118840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.16C>T
  hgvsp: ENSP00000447884.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-22C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-22C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.16C>T
  hgvsp: ENSP00000446724.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.16C>T
  hgvsp: ENSP00000392492.2:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro6Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

12-52306237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306237
    reference: chr 12
allele count: 3
allele frequency: 2.512226167347759e-5
allele num: 119416
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.21C>T
  hgvsp: ENST00000419526.2:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.21C>T
  hgvsp: ENST00000547400.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.21C>T
  hgvsp: ENST00000550683.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-52306240-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306239
    reference: chr 12
allele count: 1
allele frequency: 8.358967500334358e-6
allele num: 119632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.25delC
  hgvsp: ENSP00000446724.1:p.Leu9SerfsTer7
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-13delC
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-13delC
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.25delC
  hgvsp: ENSP00000392492.2:p.Leu9SerfsTer7
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.25delC
  hgvsp: ENSP00000447884.1:p.Leu9SerfsTer7
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu9SerfsTer7
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-52306242-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306242
    reference: chr 12
allele count: 34
allele frequency: 2.837684449489217e-4
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-12T>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.26T>G
  hgvsp: ENSP00000447884.1:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.26T>G
  hgvsp: ENSP00000392492.2:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.26T>G
  hgvsp: ENSP00000446724.1:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-12T>G
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu9Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-52306244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306244
    reference: chr 12
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.28C>T
  hgvsp: ENSP00000446724.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.28C>T
  hgvsp: ENSP00000392492.2:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.28C>T
  hgvsp: ENSP00000447884.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu10Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

12-52306247-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306247
    reference: chr 12
allele count: 1
allele frequency: 8.32639467110741e-6
allele num: 120100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.31T>G
  hgvsp: ENSP00000446724.1:p.Ser11Ala
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-7T>G
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.31T>G
  hgvsp: ENSP00000392492.2:p.Ser11Ala
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.31T>G
  hgvsp: ENSP00000447884.1:p.Ser11Ala
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-7T>G
  variant of: http://identifiers.org/hgnc/175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44850
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser11Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

12-52306249-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306249
    reference: chr 12
allele count: 1
allele frequency: 8.321959988016378e-6
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.33T>C
  hgvsp: ENST00000419526.2:c.33T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.33T>C
  hgvsp: ENST00000550683.1:c.33T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-5-5T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-5-5T>C
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.33T>C
  hgvsp: ENST00000547400.1:c.33T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
hgvs: c.-5-5T>C
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-52306255-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306255
    reference: chr 12
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.39G>T
  hgvsp: ENST00000419526.2:c.39G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.39G>T
  hgvsp: ENST00000547400.1:c.39G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.-4G>T
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.39G>T
  hgvsp: ENST00000550683.1:c.39G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.-4G>T
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
hgvs: c.-4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-52306263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306263
    reference: chr 12
allele count: 7
allele frequency: 5.809514324602463e-5
allele num: 120492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.5C>T
  hgvsp: ENSP00000373574.4:p.Thr2Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.47C>T
  hgvsp: ENSP00000392492.2:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.47C>T
  hgvsp: ENSP00000447884.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.5C>T
  hgvsp: ENSP00000455848.1:p.Thr2Ile
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.47C>T
  hgvsp: ENSP00000446724.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr2Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-52306267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306267
    reference: chr 12
allele count: 9
allele frequency: 7.468012015201553e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.51G>A
  hgvsp: ENST00000419526.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.51G>A
  hgvsp: ENST00000550683.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.9G>A
  hgvsp: ENST00000388922.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.51G>A
  hgvsp: ENST00000547400.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.9G>A
  hgvsp: ENST00000551576.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34585
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu3Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-52306267-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306267
    reference: chr 12
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.51G>T
  hgvsp: ENSP00000446724.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.51G>T
  hgvsp: ENSP00000447884.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.51G>T
  hgvsp: ENSP00000392492.2:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.9G>T
  hgvsp: ENSP00000455848.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.9G>T
  hgvsp: ENSP00000373574.4:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu3Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-52306273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306273
    reference: chr 12
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.57C>T
  hgvsp: ENST00000547400.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.57C>T
  hgvsp: ENST00000419526.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.57C>T
  hgvsp: ENST00000550683.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.15C>T
  hgvsp: ENST00000388922.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.15C>T
  hgvsp: ENST00000551576.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser5Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-52306276-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306276
    reference: chr 12
allele count: 5
allele frequency: 4.149308725166387e-5
allele num: 120502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.60C>G
  hgvsp: ENST00000550683.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.18C>G
  hgvsp: ENST00000388922.4:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.60C>G
  hgvsp: ENST00000547400.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.18C>G
  hgvsp: ENST00000551576.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.60C>G
  hgvsp: ENST00000419526.2:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS

12-52306276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306276
    reference: chr 12
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.60C>T
  hgvsp: ENST00000547400.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.18C>T
  hgvsp: ENST00000388922.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.60C>T
  hgvsp: ENST00000419526.2:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.60C>T
  hgvsp: ENST00000550683.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.18C>T
  hgvsp: ENST00000551576.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-52306281-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52306281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52306281
    reference: chr 12
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000446724
  ensembl transcript: ENST00000547400
  gene symbol: ACVRL1
  hgvsc: ENST00000547400.1:c.65A>C
  hgvsp: ENSP00000446724.1:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000455848
  ensembl transcript: ENST00000551576
  gene symbol: ACVRL1
  hgvsc: ENST00000551576.1:c.23A>C
  hgvsp: ENSP00000455848.1:p.Lys8Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000447884
  ensembl transcript: ENST00000550683
  gene symbol: ACVRL1
  hgvsc: ENST00000550683.1:c.65A>C
  hgvsp: ENSP00000447884.1:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000392492
  ensembl transcript: ENST00000419526
  gene symbol: ACVRL1
  hgvsc: ENST00000419526.2:c.65A>C
  hgvsp: ENSP00000392492.2:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139567
  ensembl protein: ENSP00000373574
  ensembl transcript: ENST00000388922
  gene symbol: ACVRL1
  hgvsc: ENST00000388922.4:c.23A>C
  hgvsp: ENSP00000373574.4:p.Lys8Thr
  variant of: http://identifiers.org/hgnc/175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14644
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys8Thr
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540689612670631e-5
allele num: 64906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.013254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-2

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 6.529e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 9157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.11e1

FS
type: SiteQuality
SIO_000300: 1.286e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 2.007749e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64814
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 4.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

DP
type: SiteQuality
SIO_000300: 2.005511e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 714
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.183335909723296e-5
allele num: 64690
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 1.034e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.989148e6

QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

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

African
type: Population
allele count: 63
allele frequency: 6.361066235864297e-3
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.950048e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
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: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.867e0

FS
type: SiteQuality
SIO_000300: 3.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.613576e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500045000450004e-5
allele num: 66666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.593e0

DP
type: SiteQuality
SIO_000300: 1.613039e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 1812
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 848
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.612418e6

FS
type: SiteQuality
SIO_000300: 2.589e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.611589e6

FS
type: SiteQuality
SIO_000300: 5.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.061e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -8.76e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

DP
type: SiteQuality
SIO_000300: 1.601633e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.583e-1

GenotypeQuality
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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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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.161170459823502e-3
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824817518248175e-4
allele num: 16440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.443e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
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SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

DP
type: SiteQuality
SIO_000300: 1.596361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.338e1

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

DP
type: SiteQuality
SIO_000300: 1.586614e6

VQSLOD
type: SiteQuality
SIO_000300: -2.541e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.685e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.963e0

QD
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.693e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.679e0

DP
type: SiteQuality
SIO_000300: 1.580997e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560656734569778e-5
allele num: 65780
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.979e0

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.573534e6

QD
type: SiteQuality
SIO_000300: 1.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.441e0

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224889759921607e-4
allele num: 16328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65426
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African
type: Population
allele count: 1
allele frequency: 9.988014382740711e-5
allele num: 10012
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Other
type: Population
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East Asian
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allele frequency: 0.0e0
allele num: 8514
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South Asian
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allele count: 0
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allele num: 16228
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MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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Latino
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65210
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African
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European (Finnish)
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allele count: 1
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allele num: 6444
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South Asian
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Other
type: Population
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East Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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MQRankSum
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DP
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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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East Asian
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South Asian
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Other
type: Population
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allele num: 876
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European (Non-Finnish)
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allele count: 180
allele frequency: 2.760736196319019e-3
allele num: 65200
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Latino
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allele frequency: 7.045974986788797e-4
allele num: 11354
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.010839020473706e-4
allele num: 9964
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European (Finnish)
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allele count: 32
allele frequency: 4.965859714463066e-3
allele num: 6444
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536853752996865e-5
allele num: 65068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 1.5348e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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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: 869
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64134
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.497e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.490099e6

GenotypeQuality
all individuals: 1473
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.055966209081309e-4
allele num: 9470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.464722e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.734e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 8.648999999999999e0

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

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
all individuals: 1494
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.69e-1

FS
type: SiteQuality
SIO_000300: 6.852e0

DP
type: SiteQuality
SIO_000300: 1.463049e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeQuality
all individuals: 1494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 511
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GenotypeQuality
all individuals: 5743
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574208173288836e-5
allele num: 63524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.129e1

DP
type: SiteQuality
SIO_000300: 1.461708e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1347
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variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10796
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.832e0

DP
type: SiteQuality
SIO_000300: 1.444962e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.523e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.518370454978108e-5
allele num: 10506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61842
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

VQSLOD
type: SiteQuality
SIO_000300: -7.904e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.279e0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

DP
type: SiteQuality
SIO_000300: 1.405962e6

GenotypeQuality
all individuals: 212
bin: 2.5e0
variant carriers: 23

GenotypeQuality
all individuals: 24273
bin: 6.25e1
variant carriers: 225

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 119

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 117

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 48

GenotypeQuality
all individuals: 2612
bin: 6.75e1
variant carriers: 219

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 487
bin: 7.75e1
variant carriers: 217

GenotypeQuality
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bin: 8.75e1
variant carriers: 103

GenotypeQuality
all individuals: 281
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variant carriers: 178

GenotypeQuality
all individuals: 18610
bin: 9.75e1
variant carriers: 18540

GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 160

East Asian
type: Population
allele count: 1643
allele frequency: 2.083439005833122e-1
allele num: 7886
num of homozygotes: 149

Other
type: Population
allele count: 185
allele frequency: 2.218225419664269e-1
allele num: 834
num of homozygotes: 24

Latino
type: Population
allele count: 1724
allele frequency: 1.65355841166315e-1
allele num: 10426
num of homozygotes: 116

African
type: Population
allele count: 552
allele frequency: 6.123807410694476e-2
allele num: 9014
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 13560
allele frequency: 2.207318661284021e-1
allele num: 61432
num of homozygotes: 1364

European (Finnish)
type: Population
allele count: 1414
allele frequency: 2.397422855205154e-1
allele num: 5898
num of homozygotes: 139

South Asian
type: Population
allele count: 3581
allele frequency: 2.322911261027504e-1
allele num: 15416
num of homozygotes: 425

QD
type: SiteQuality
SIO_000300: 1.495e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

DP
type: SiteQuality
SIO_000300: 1.470422e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
all individuals: 3559
bin: 6.75e1
variant carriers: 7

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 1079
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1954
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variant carriers: 1914

GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 1466
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 8.75e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 29274
bin: 6.25e1
variant carriers: 8

African
type: Population
allele count: 50
allele frequency: 5.83975706610605e-3
allele num: 8562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.402524544179523e-4
allele num: 7130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 3.040668947168377e-3
allele num: 5262
num of homozygotes: 0

South Asian
type: Population
allele count: 124
allele frequency: 8.712759977515458e-3
allele num: 14232
num of homozygotes: 2

Other
type: Population
allele count: 24
allele frequency: 3.157894736842105e-2
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 146
allele frequency: 1.547265790589233e-2
allele num: 9436
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1667
allele frequency: 2.959661955827001e-2
allele num: 56324
num of homozygotes: 33

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

FS
type: SiteQuality
SIO_000300: 1.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.230037e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 928
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.973398587046612e-5
allele num: 50674
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.059417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.975191593584578e-5
allele num: 50628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.057442e6

FS
type: SiteQuality
SIO_000300: 4.428e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

QD
type: SiteQuality
SIO_000300: 2.593e1

VQSLOD
type: SiteQuality
SIO_000300: -2.899e0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 5.536222714330908e-4
allele num: 50576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.218323586744639e-4
allele num: 8208
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.87442713107241e-4
allele num: 13092
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.743e0

DP
type: SiteQuality
SIO_000300: 1.055638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.468e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.074842054106593e-5
allele num: 49384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

FS
type: SiteQuality
SIO_000300: 5.19e0

DP
type: SiteQuality
SIO_000300: 1.019823e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
all individuals: 481
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1613
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 2658
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44856
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 4.046535154274153e-3
allele num: 11862
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 8.95948e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3153
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1071
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3926
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.28310502283105e-3
allele num: 438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 8.692412765429032e-4
allele num: 32212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.413746017296313e-4
allele num: 8788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

DP
type: SiteQuality
SIO_000300: 6.32759e5

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.951007506914263e-5
allele num: 25310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

VQSLOD
type: SiteQuality
SIO_000300: -5.837e-1

FS
type: SiteQuality
SIO_000300: 5.686e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 5.38567e5

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

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.033884630899557e-5
allele num: 24790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.06e-1

DP
type: SiteQuality
SIO_000300: 5.31519e5

QD
type: SiteQuality
SIO_000300: 5.2e0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 2.237136465324385e-3
allele num: 1788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.305e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

FS
type: SiteQuality
SIO_000300: 3.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.98e-2

DP
type: SiteQuality
SIO_000300: 4.30189e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2068
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 8.103727714748784e-4
allele num: 3702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.8307e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.94e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7573
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 3.8307e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 24

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 33

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 26

Latino
type: Population
allele count: 2
allele frequency: 2.331002331002331e-3
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.952380952380953e-4
allele num: 1680
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 139
allele frequency: 1.297610156833458e-2
allele num: 10712
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.077586206896552e-2
allele num: 928
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 3.550295857988166e-3
allele num: 3380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.266e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 1.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.75428e5

GenotypeQuality
all individuals: 14069
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -6.979e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.71355e5

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8334
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.615e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.6723e5

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
all individuals: 5142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.740262282247015e-4
allele num: 51090
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.001717229536348e-3
allele num: 13976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.08094e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51230
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

DP
type: SiteQuality
SIO_000300: 1.09879e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 11846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.93753390684337e-5
allele num: 51612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14056
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.130478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16949
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.903166869671133e-5
allele num: 52544
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.322751322751323e-3
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.693958215697346e-3
allele num: 14168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.182689e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 2.068e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29473
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.349892008639309e-4
allele num: 14816
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732982115624567e-5
allele num: 57704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.391761e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 31453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703229322796021e-5
allele num: 58712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.699718611818304e-5
allele num: 14926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.408651e6

GenotypeQuality
all individuals: 5104
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636179194345365e-5
allele num: 61118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

DP
type: SiteQuality
SIO_000300: 1.456187e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 6.101e0

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.158e1

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

GenotypeQuality
all individuals: 5146
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.129925452609159e-4
allele num: 9390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.506168e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 4.957e0

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 9.75e1
variant carriers: 9

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.412163434381472e-4
allele num: 63732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 6.509e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.516758e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.508e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.456e0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 564
bin: 9.25e1
variant carriers: 35

GenotypeQuality
all individuals: 3223
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 25

East Asian
type: Population
allele count: 646
allele frequency: 7.591069330199765e-2
allele num: 8510
num of homozygotes: 18

Latino
type: Population
allele count: 1157
allele frequency: 1.037296037296037e-1
allele num: 11154
num of homozygotes: 67

European (Non-Finnish)
type: Population
allele count: 5942
allele frequency: 9.230147881197961e-2
allele num: 64376
num of homozygotes: 271

European (Finnish)
type: Population
allele count: 630
allele frequency: 1.018099547511312e-1
allele num: 6188
num of homozygotes: 27

African
type: Population
allele count: 629
allele frequency: 6.535743973399834e-2
allele num: 9624
num of homozygotes: 20

South Asian
type: Population
allele count: 950
allele frequency: 6.005816158806423e-2
allele num: 15818
num of homozygotes: 36

Other
type: Population
allele count: 72
allele frequency: 8.551068883610451e-2
allele num: 842
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.709185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5040
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.165289256198347e-4
allele num: 9680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64688
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.571667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.124e0

FS
type: SiteQuality
SIO_000300: 1.069e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.890469416785207e-5
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.704e1

VQSLOD
type: SiteQuality
SIO_000300: -1.512e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.759e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 1.577552e6

GenotypeQuality
all individuals: 5056
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 1150
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.25281884239539e-4
allele num: 15964
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 2.041232904674424e-3
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.47268708556994e-4
allele num: 6334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.584464e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.243756243756244e-5
allele num: 16016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.590016e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

VQSLOD
type: SiteQuality
SIO_000300: -2.199e0

FS
type: SiteQuality
SIO_000300: 1.6377e1

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5040
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.313496280552603e-4
allele num: 11292
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

FS
type: SiteQuality
SIO_000300: 1.6377e1

DP
type: SiteQuality
SIO_000300: 1.590016e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 1167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.596665e6

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
SIO_000300: 1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

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

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5033
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554425383330803e-5
allele num: 65870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.008e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.467e0

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.604552e6

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.532e0

QD
type: SiteQuality
SIO_000300: 1.035e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.607888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 1368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44628
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027734043841589e-5
allele num: 66056
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.627890679747723e-4
allele num: 11416
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 2.866745749308027e-3
allele num: 10116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

DP
type: SiteQuality
SIO_000300: 1.611151e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 1.915e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.612369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -5.058e0

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 3.49e1

MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

FS
type: SiteQuality
SIO_000300: 4.497e0

GenotypeQuality
all individuals: 1190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.403e0

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

DP
type: SiteQuality
SIO_000300: 1.614346e6

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.898e0

QD
type: SiteQuality
SIO_000300: 1.461e1

FS
type: SiteQuality
SIO_000300: 4.291e0

VQSLOD
type: SiteQuality
SIO_000300: -5.747e-1

DP
type: SiteQuality
SIO_000300: 1.615636e6

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45059
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.618936e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 1.979e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.838685952439323e-4
allele num: 16316
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.521749615651282e-5
allele num: 66346
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 9.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.620785e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 45088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.205763549767891e-4
allele num: 66348
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.621863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 1.111e0

QD
type: SiteQuality
SIO_000300: 1.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.621863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 2.696e0

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.622534e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 5024
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
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GenotypeQuality
all individuals: 1368
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.535795026375282e-5
allele num: 66350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.622538e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 4943
bin: 6.75e1
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GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 1.622538e6