2-111753548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753548
    reference: chr 2
allele count: 1
allele frequency: 8.41283462049703e-6
allele num: 118866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1338T>C
  hgvsp: ENST00000389811.4:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.15T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.279T>C
  hgvsp: ENST00000443586.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.762T>C
  hgvsp: ENST00000417074.1:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1248T>C
  hgvsp: ENST00000439055.1:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.99T>C
  hgvsp: ENST00000441974.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu416Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-111753552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753552
    reference: chr 2
allele count: 129
allele frequency: 1.080275344599461e-3
allele num: 119414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.766C>T
  hgvsp: ENSP00000387832.1:p.Arg256Trp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.19C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1252C>T
  hgvsp: ENSP00000407761.1:p.Arg418Trp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.103C>T
  hgvsp: ENSP00000393823.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.283C>T
  hgvsp: ENSP00000409500.1:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1342C>T
  hgvsp: ENSP00000374461.4:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 9.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12798
  bin: 9.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg418Trp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-111753553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753553
    reference: chr 2
allele count: 5
allele frequency: 4.193153419097298e-5
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1343G>A
  hgvsp: ENSP00000374461.4:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.284G>A
  hgvsp: ENSP00000409500.1:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1253G>A
  hgvsp: ENSP00000407761.1:p.Arg418Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.767G>A
  hgvsp: ENSP00000387832.1:p.Arg256Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.20G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.104G>A
  hgvsp: ENSP00000393823.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12613
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Arg418Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-111753574-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753574
    reference: chr 2
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.305A>T
  hgvsp: ENSP00000409500.1:p.Tyr102Phe
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1274A>T
  hgvsp: ENSP00000407761.1:p.Tyr425Phe
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.788A>T
  hgvsp: ENSP00000387832.1:p.Tyr263Phe
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1364A>T
  hgvsp: ENSP00000374461.4:p.Tyr455Phe
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.41A>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.125A>T
  hgvsp: ENSP00000393823.1:p.Tyr42Phe
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr425Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-111753590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753590
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753590
    reference: chr 2
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+9A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+9A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+9A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+9A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+9A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+9A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-111753591-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753591
    reference: chr 2
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+10C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+10C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+10C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+10C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+10C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+10C>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8436
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-111753594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753594
    reference: chr 2
allele count: 2854
allele frequency: 2.411695115768126e-2
allele num: 118340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+13T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+13T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+13T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+13T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+13T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+13T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17264
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 3.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 4.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 9.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12775
  bin: 9.75e1
  variant carriers: 2792
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8354
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 59
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-111753601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753601
    reference: chr 2
allele count: 3
allele frequency: 2.477577919825579e-5
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+20T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+20T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+20T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+20T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+20T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+20T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-111753602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753602
    reference: chr 2
allele count: 7
allele frequency: 5.781110633940074e-5
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+21A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+21A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+21A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+21A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+21A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+21A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10687
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-111753609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753609
    reference: chr 2
allele count: 18
allele frequency: 1.487603305785124e-4
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+28C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-111753613-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753613
    reference: chr 2
allele count: 8
allele frequency: 6.612991221254154e-5
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+32T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+32T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+32T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+32T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+32T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+32T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10666
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-111753621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753621
    reference: chr 2
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+40G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+40G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+40G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+40G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+40G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+40G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-111753621-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753621
    reference: chr 2
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+40G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+40G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+40G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+40G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+40G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+40G>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

2-111753632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111753632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111753632
    reference: chr 2
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.132+51A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.795+51A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl transcript: ENST00000496981
  gene symbol: ACOXL
  hgvsc: ENST00000496981.1:n.48+51A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1281+51A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1371+51A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.312+51A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-111789153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789153
    reference: chr 2
allele count: 20
allele frequency: 1.655766205811739e-4
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17642G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10649
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-111789153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789153
    reference: chr 2
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-51G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-51G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-51G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-51G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17642G>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-111789157-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789157
    reference: chr 2
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-47C>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-47C>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17638C>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-47C>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-47C>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-111789161-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789161
    reference: chr 2
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-43C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-43C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17634C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-43C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-43C>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
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genotype quality: GenotypeQuality
  all individuals: 8721
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18531
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-111789164-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789164
    reference: chr 2
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17631A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-40A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-40A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-40A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-40A>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 4414
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genotype quality: GenotypeQuality
  all individuals: 585
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genotype quality: GenotypeQuality
  all individuals: 5499
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
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genotype quality: GenotypeQuality
  all individuals: 2192
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-111789165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789165
    reference: chr 2
allele count: 34
allele frequency: 2.809638713516015e-4
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-39A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17630A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-39A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-39A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-39A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19689
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-111789174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789174
    reference: chr 2
allele count: 11
allele frequency: 9.083852213982526e-5
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-30A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-30A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-30A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17621A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-30A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-111789190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789190
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-14T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-14T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-14T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-14T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17605T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21549
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 67
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genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10620
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-111789193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789193
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789193
    reference: chr 2
allele count: 9
allele frequency: 7.424272421302712e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-11C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-11C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17602C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-11C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-11C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21580
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genotype quality: GenotypeQuality
  all individuals: 5538
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genotype quality: GenotypeQuality
  all individuals: 2963
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10627
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-111789194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789194
    reference: chr 2
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1282-10G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.796-10G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.133-10G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1372-10G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17601G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10621
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-111789205-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789205
    reference: chr 2
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.134T>C
  hgvsp: ENSP00000393823.1:p.Val45Ala
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17590T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1283T>C
  hgvsp: ENSP00000407761.1:p.Val428Ala
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1373T>C
  hgvsp: ENSP00000374461.4:p.Val458Ala
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.797T>C
  hgvsp: ENSP00000387832.1:p.Val266Ala
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10621
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val428Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-111789209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789209
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789209
    reference: chr 2
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.801G>A
  hgvsp: ENST00000417074.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1377G>A
  hgvsp: ENST00000389811.4:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17586G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.138G>A
  hgvsp: ENST00000441974.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1287G>A
  hgvsp: ENST00000439055.1:c.1287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10621
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys429Lys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-111789221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789221
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789221
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1299G>C
  hgvsp: ENSP00000407761.1:p.Glu433Asp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17574G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1389G>C
  hgvsp: ENSP00000374461.4:p.Glu463Asp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.813G>C
  hgvsp: ENSP00000387832.1:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.150G>C
  hgvsp: ENSP00000393823.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu433Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-111789223-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789224
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.821dupT
  hgvsp: ENSP00000387832.1:p.His275ProfsTer35
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1397dupT
  hgvsp: ENSP00000374461.4:p.His467ProfsTer35
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17566dupT
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.158dupT
  hgvsp: ENSP00000393823.1:p.His54ProfsTer39
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1307dupT
  hgvsp: ENSP00000407761.1:p.His437ProfsTer35
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His437ProfsTer35
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

2-111789223-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789222
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17566delT
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.821delT
  hgvsp: ENSP00000387832.1:p.Phe274SerfsTer24
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1307delT
  hgvsp: ENSP00000407761.1:p.Phe436SerfsTer24
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1397delT
  hgvsp: ENSP00000374461.4:p.Phe466SerfsTer24
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.158delT
  hgvsp: ENSP00000393823.1:p.Phe53SerfsTer?
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe436SerfsTer24
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-111789236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789236
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.828C>T
  hgvsp: ENST00000417074.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.165C>T
  hgvsp: ENST00000441974.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17559C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1314C>T
  hgvsp: ENST00000439055.1:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1404C>T
  hgvsp: ENST00000389811.4:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala438Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-111789244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789244
    reference: chr 2
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.173C>T
  hgvsp: ENSP00000393823.1:p.Ser58Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1412C>T
  hgvsp: ENSP00000374461.4:p.Ser471Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.836C>T
  hgvsp: ENSP00000387832.1:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1322C>T
  hgvsp: ENSP00000407761.1:p.Ser441Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17551C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser441Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-111789245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789245
    reference: chr 2
allele count: 47
allele frequency: 3.872200893077823e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.837G>A
  hgvsp: ENST00000417074.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1413G>A
  hgvsp: ENST00000389811.4:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1323G>A
  hgvsp: ENST00000439055.1:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.174G>A
  hgvsp: ENST00000441974.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17550G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10658
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser441Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-111789252-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789253
    reference: chr 2
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1420_1421insT
  hgvsp: ENSP00000374461.4:p.His474LeufsTer28
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.181_182insT
  hgvsp: ENSP00000393823.1:p.His61LeufsTer32
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17543_313-17542insT
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1330_1331insT
  hgvsp: ENSP00000407761.1:p.His444LeufsTer28
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.844_845insT
  hgvsp: ENSP00000387832.1:p.His282LeufsTer28
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10618
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His444LeufsTer28
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-111789257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789257
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1425C>T
  hgvsp: ENST00000389811.4:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.849C>T
  hgvsp: ENST00000417074.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17538C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.186C>T
  hgvsp: ENST00000441974.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1335C>T
  hgvsp: ENST00000439055.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21833
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His445His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-111789258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789258
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789258
    reference: chr 2
allele count: 13
allele frequency: 1.071016641950898e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1336G>A
  hgvsp: ENSP00000407761.1:p.Val446Met
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17537G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1426G>A
  hgvsp: ENSP00000374461.4:p.Val476Met
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.850G>A
  hgvsp: ENSP00000387832.1:p.Val284Met
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.187G>A
  hgvsp: ENSP00000393823.1:p.Val63Met
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val446Met
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-111789269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789269
    reference: chr 2
allele count: 17
allele frequency: 1.400467921046562e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17526G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1347G>A
  hgvsp: ENST00000439055.1:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.198G>A
  hgvsp: ENST00000441974.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1437G>A
  hgvsp: ENST00000389811.4:c.1437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.861G>A
  hgvsp: ENST00000417074.1:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu449Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

2-111789269-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789269
    reference: chr 2
allele count: 8
allele frequency: 6.59043727551323e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.861G>T
  hgvsp: ENST00000417074.1:c.861G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17526G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.198G>T
  hgvsp: ENST00000441974.1:c.198G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1437G>T
  hgvsp: ENST00000389811.4:c.1437G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1347G>T
  hgvsp: ENST00000439055.1:c.1347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu449Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-111789283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789283
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.875C>A
  hgvsp: ENSP00000387832.1:p.Thr292Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17512C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.212C>A
  hgvsp: ENSP00000393823.1:p.Thr71Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1451C>A
  hgvsp: ENSP00000374461.4:p.Thr484Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1361C>A
  hgvsp: ENSP00000407761.1:p.Thr454Asn
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr454Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-111789287-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789287
    reference: chr 2
allele count: 28
allele frequency: 2.306995138831672e-4
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.216C>A
  hgvsp: ENSP00000393823.1:p.His72Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.879C>A
  hgvsp: ENSP00000387832.1:p.His293Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17508C>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1365C>A
  hgvsp: ENSP00000407761.1:p.His455Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1455C>A
  hgvsp: ENSP00000374461.4:p.His485Gln
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13889
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10628
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His455Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-111789288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789288
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.217C>T
  hgvsp: ENSP00000393823.1:p.Arg73Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1456C>T
  hgvsp: ENSP00000374461.4:p.Arg486Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.880C>T
  hgvsp: ENSP00000387832.1:p.Arg294Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1366C>T
  hgvsp: ENSP00000407761.1:p.Arg456Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17507C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10603
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg456Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-111789289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789289
    reference: chr 2
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.881G>A
  hgvsp: ENSP00000387832.1:p.Arg294Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1457G>A
  hgvsp: ENSP00000374461.4:p.Arg486Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17506G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.218G>A
  hgvsp: ENSP00000393823.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1367G>A
  hgvsp: ENSP00000407761.1:p.Arg456Gln
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg456Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-111789296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789296
    reference: chr 2
allele count: 57
allele frequency: 4.697079570176017e-4
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+5G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+5G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+5G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+5G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17499G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1369+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-111789300-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789300
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+9G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17495G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+9G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+9G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+9G>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-111789309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789309
    reference: chr 2
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+18G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+18G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+18G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17486G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+18G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-111789312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789312
    reference: chr 2
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+21T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+21T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+21T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17483T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+21T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21302
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 98
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10591
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-111789318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789318
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789318
    reference: chr 2
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+27T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+27T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+27T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17477T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+27T>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11591
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
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genotype depth: GenotypeDepth
  all individuals: 148
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 600
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genotype depth: GenotypeDepth
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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
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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
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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: 79
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-111789323-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789323
    reference: chr 2
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+32G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+32G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+32G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+32G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17472G>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
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
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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: 4427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-111789331-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789329
    reference: chr 2
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+41_1459+42delAG
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+41_1369+42delAG
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17463_313-17462delAG
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+41_883+42delAG
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+41_220+42delAG
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CAG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

2-111789333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789333
    reference: chr 2
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+42G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+42G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+42G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+42G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17462G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-111789340-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789340
    reference: chr 2
allele count: 2
allele frequency: 1.65196418541646e-5
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+49A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+49A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17455A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+49A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+49A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-111789341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789341
    reference: chr 2
allele count: 2
allele frequency: 1.653630545863443e-5
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+50C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17454C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+50C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+50C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+50C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10577
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12486
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

2-111789342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111789342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111789342
    reference: chr 2
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1459+51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-17453G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.883+51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1369+51G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+51G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-111806753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806753
    reference: chr 2
allele count: 11
allele frequency: 9.77656113905825e-5
allele num: 112514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-42C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-42C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-42C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17462C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-42C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3776
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18597
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 195
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 214
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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: 1160
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genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-111806754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806754
    reference: chr 2
allele count: 13
allele frequency: 1.153934918070621e-4
allele num: 112658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-41G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17463G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-41G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-41G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-41G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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
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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
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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: 1307
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

2-111806762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806762
    reference: chr 2
allele count: 70
allele frequency: 6.125091876378146e-4
allele num: 114284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17471A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-33A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-33A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-33A>G
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-33A>G
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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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  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-111806779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806779
    reference: chr 2
allele count: 1
allele frequency: 8.500076500688507e-6
allele num: 117646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-16A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-16A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-16A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17488A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-16A>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-111806786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806786
    reference: chr 2
allele count: 1
allele frequency: 8.415100055539661e-6
allele num: 118834
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-9C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17495C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-9C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-9C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-9C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1270
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genotype quality: GenotypeQuality
  all individuals: 559
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45879
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-111806794-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806794
    reference: chr 2
allele count: 15
allele frequency: 1.252442262411703e-4
allele num: 119766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17503G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1370-1G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.313-1G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1460-1G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.884-1G>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 274
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 347
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1370-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-111806799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806799
    reference: chr 2
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.317C>T
  hgvsp: ENSP00000409500.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1374C>T
  hgvsp: ENST00000439055.1:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1464C>T
  hgvsp: ENST00000389811.4:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.888C>T
  hgvsp: ENST00000417074.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17508C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro106Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-111806801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806801
    reference: chr 2
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1376T>C
  hgvsp: ENSP00000407761.1:p.Leu459Ser
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.319T>C
  hgvsp: ENSP00000409500.1:p.Ter107GlnextTer5
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1466T>C
  hgvsp: ENSP00000374461.4:p.Leu489Ser
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17510T>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.890T>C
  hgvsp: ENSP00000387832.1:p.Leu297Ser
  variant of: http://identifiers.org/hgnc/25621
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter107GlnextTer5
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-111806808-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806808
    reference: chr 2
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.897G>C
  hgvsp: ENSP00000387832.1:p.Gln299His
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1473G>C
  hgvsp: ENSP00000374461.4:p.Gln491His
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17517G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*5G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1383G>C
  hgvsp: ENSP00000407761.1:p.Gln461His
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln461His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

2-111806812-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806812
    reference: chr 2
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*9T>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1477T>A
  hgvsp: ENSP00000374461.4:p.Ser493Thr
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17521T>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1387T>A
  hgvsp: ENSP00000407761.1:p.Ser463Thr
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.901T>A
  hgvsp: ENSP00000387832.1:p.Ser301Thr
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser463Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-111806826-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806826
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1401G>T
  hgvsp: ENSP00000407761.1:p.Lys467Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1491G>T
  hgvsp: ENSP00000374461.4:p.Lys497Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*23G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17535G>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.915G>T
  hgvsp: ENSP00000387832.1:p.Lys305Asn
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys467Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-111806828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806828
    reference: chr 2
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1403G>A
  hgvsp: ENSP00000407761.1:p.Ser468Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17537G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1493G>A
  hgvsp: ENSP00000374461.4:p.Ser498Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.917G>A
  hgvsp: ENSP00000387832.1:p.Ser306Asn
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser468Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-111806831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806831
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806831
    reference: chr 2
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1406G>A
  hgvsp: ENSP00000407761.1:p.Cys469Tyr
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1496G>A
  hgvsp: ENSP00000374461.4:p.Cys499Tyr
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.920G>A
  hgvsp: ENSP00000387832.1:p.Cys307Tyr
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17540G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys469Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-111806832-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806832
    reference: chr 2
allele count: 74
allele frequency: 6.129887342611e-4
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.921T>A
  hgvsp: ENSP00000387832.1:p.Cys307Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17541T>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1407T>A
  hgvsp: ENSP00000407761.1:p.Cys469Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1497T>A
  hgvsp: ENSP00000374461.4:p.Cys499Ter
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*29T>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38229
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys469Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-111806836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806836
    reference: chr 2
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17545G>A
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1501G>A
  hgvsp: ENSP00000374461.4:p.Asp501Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1411G>A
  hgvsp: ENSP00000407761.1:p.Asp471Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.925G>A
  hgvsp: ENSP00000387832.1:p.Asp309Asn
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp471Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-111806838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806838
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1413C>T
  hgvsp: ENST00000439055.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17547C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1503C>T
  hgvsp: ENST00000389811.4:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.927C>T
  hgvsp: ENST00000417074.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp471Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-111806840-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806840
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1505A>T
  hgvsp: ENSP00000374461.4:p.Gln502Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17549A>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.929A>T
  hgvsp: ENSP00000387832.1:p.Gln310Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1415A>T
  hgvsp: ENSP00000407761.1:p.Gln472Leu
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*37A>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln472Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-111806866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806866
    reference: chr 2
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1440+1G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*62+1G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1530+1G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17575G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.954+1G>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1440+1G>C
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-111806877-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806877
    reference: chr 2
allele count: 1
allele frequency: 8.65321380360666e-6
allele num: 115564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*62+12G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1530+12G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17586G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.954+12G>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1440+12G>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

2-111806893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806893
    reference: chr 2
allele count: 68
allele frequency: 6.093845216331506e-4
allele num: 111588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17602C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1530+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1440+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*62+28C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.954+28C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14247
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-111806906-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806906
    reference: chr 2
allele count: 1
allele frequency: 9.253090532237768e-6
allele num: 108072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.954+41A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1440+41A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17615A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*62+41A>C
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1530+41A>C
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-111806908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111806908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 111806908
    reference: chr 2
allele count: 1
allele frequency: 9.365751320570936e-6
allele num: 106772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000409500
  ensembl transcript: ENST00000443586
  gene symbol: ACOXL
  hgvsc: ENST00000443586.1:c.*62+43C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000393823
  ensembl transcript: ENST00000441974
  gene symbol: ACOXL
  hgvsc: ENST00000441974.1:c.220+17617C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000374461
  ensembl transcript: ENST00000389811
  gene symbol: ACOXL
  hgvsc: ENST00000389811.4:c.1530+43C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000387832
  ensembl transcript: ENST00000417074
  gene symbol: ACOXL
  hgvsc: ENST00000417074.1:c.954+43C>T
  variant of: http://identifiers.org/hgnc/25621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153093
  ensembl protein: ENSP00000407761
  ensembl transcript: ENST00000439055
  gene symbol: ACOXL
  hgvsc: ENST00000439055.1:c.1440+43C>T
  variant of: http://identifiers.org/hgnc/25621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 8445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23125
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.984e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

FS
type: SiteQuality
SIO_000300: 1.2449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.417979e6

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23130
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3640
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.134969325153375e-4
allele num: 11410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499100179964007e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 118
allele frequency: 1.365108745950949e-2
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.445779e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 5.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.359046945034206e-4
allele num: 8478
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 2.427727e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 1.4882e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12761
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 1.4876e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.615e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 2.414205e6

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

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13058
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 2.46365e6

QD
type: SiteQuality
SIO_000300: 1.396e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.724e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 1.4893e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3643
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.447652e6

QD
type: SiteQuality
SIO_000300: 1.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

FS
type: SiteQuality
SIO_000300: 1.4752e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.299e0

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 1481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 27
allele frequency: 3.0e-2
allele num: 900
num of homozygotes: 1

South Asian
type: Population
allele count: 789
allele frequency: 4.78239786640805e-2
allele num: 16498
num of homozygotes: 31

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 4.593008420515438e-3
allele num: 7838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 175
allele frequency: 2.650711905483187e-2
allele num: 6602
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1710
allele frequency: 2.569264979866578e-2
allele num: 66556
num of homozygotes: 25

Latino
type: Population
allele count: 115
allele frequency: 1.015721603956898e-2
allele num: 11322
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

DP
type: SiteQuality
SIO_000300: 2.417173e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

GenotypeQuality
all individuals: 1567
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10686
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504639778972342e-5
allele num: 66598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

FS
type: SiteQuality
SIO_000300: 1.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

DP
type: SiteQuality
SIO_000300: 2.348999e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.803e1

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2281
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.242938538004607e-4
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 2.348742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10679
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.704326923076923e-4
allele num: 66560
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.157e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 2.329676e6

FS
type: SiteQuality
SIO_000300: 1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.211952744961779e-4
allele num: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 1.517e0

DP
type: SiteQuality
SIO_000300: 2.305663e6

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

GenotypeQuality
all individuals: 4702
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18724
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e0

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 2.26788e6

FS
type: SiteQuality
SIO_000300: 2.988e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 771
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10643
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.26788e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.988e0

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 2168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 842
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.226638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.188e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8526
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.355625847266154e-4
allele num: 66390
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.047486033519553e-3
allele num: 8592
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.085e0

FS
type: SiteQuality
SIO_000300: 3.542e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.95043e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.085e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.95043e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 3.542e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
all individuals: 4408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10621
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.957237e6

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
all individuals: 2182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5477
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

East Asian
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: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.616e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 1.966675e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.314e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
all individuals: 3903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10624
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.566e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.34e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 1.973892e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10643
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4411
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 33
allele frequency: 3.186558516801854e-3
allele num: 10356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.545e1

DP
type: SiteQuality
SIO_000300: 1.975879e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 10624
bin: 9.75e1
variant carriers: 10

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.680555555555555e-4
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987721e6

QD
type: SiteQuality
SIO_000300: 1.523e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.73e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.689e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.856e-1

DP
type: SiteQuality
SIO_000300: 1.995338e6

FS
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05048322228225e-4
allele num: 66636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.224e0

DP
type: SiteQuality
SIO_000300: 1.996496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 9034
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GenotypeQuality
all individuals: 24
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.996766e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

FS
type: SiteQuality
SIO_000300: 5.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 7.748e0

DP
type: SiteQuality
SIO_000300: 1.997928e6

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -7.113e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 1.998499e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 7.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 2198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

QD
type: SiteQuality
SIO_000300: 1.215e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 1.999329e6

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.008e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

DP
type: SiteQuality
SIO_000300: 1.999474e6

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

QD
type: SiteQuality
SIO_000300: 1.08e1

FS
type: SiteQuality
SIO_000300: 7.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 6.008e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.381e0

DP
type: SiteQuality
SIO_000300: 1.999474e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

GenotypeQuality
all individuals: 5547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.999948e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.749e0

QD
type: SiteQuality
SIO_000300: 1.261e1

FS
type: SiteQuality
SIO_000300: 4.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

GenotypeQuality
all individuals: 33
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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: 10620
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3955
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 9.44e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.795e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.00032e6

MQRankSum
type: SiteQuality
SIO_000300: -9.87e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 37
allele frequency: 2.240794573643411e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.04916067146283e-4
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.003312e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.134e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
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DP
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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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10400
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QD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 1.442030378773313e-3
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.002238e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 1.807e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

FS
type: SiteQuality
SIO_000300: 1.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 2.002238e6

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 8.25e1
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.43e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.00139e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 7.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 25
allele frequency: 2.403383964622188e-3
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

FS
type: SiteQuality
SIO_000300: 1.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
type: SiteQuality
SIO_000300: 2.001634e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1867e1

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

QD
type: SiteQuality
SIO_000300: 1.212e1

DP
type: SiteQuality
SIO_000300: 2.000553e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 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: 6608
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 4.712e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

DP
type: SiteQuality
SIO_000300: 2.000314e6

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -5.153e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 57

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 57
allele frequency: 3.45203488372093e-3
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 2.001614e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

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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bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.99951e6

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

QD
type: SiteQuality
SIO_000300: 1.259e1

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

DP
type: SiteQuality
SIO_000300: 1.997833e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele num: 11566
num of homozygotes: 0

South Asian
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Other
type: Population
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African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1363e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.689e1

GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66664
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African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0249e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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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
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allele num: 16506
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East Asian
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allele frequency: 0.0e0
allele num: 8636
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

African
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.987228e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10582
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.817e0

DP
type: SiteQuality
SIO_000300: 1.970384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.545e1

QD
type: SiteQuality
SIO_000300: 1.008e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
all individuals: 10580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.661e1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

FS
type: SiteQuality
SIO_000300: 4.166e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.963296e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

GenotypeQuality
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10580
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 5.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.954413e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 1.954171e6

FS
type: SiteQuality
SIO_000300: 1.691e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.954274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

QD
type: SiteQuality
SIO_000300: 1.637e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.659e0

GenotypeQuality
all individuals: 3539
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.251564455569462e-4
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.236979250963001e-5
allele num: 61786
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.706831629908553e-4
allele num: 14872
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.803e0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.965e0

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 1.356461e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.337792642140468e-4
allele num: 14950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.859427296392711e-4
allele num: 10756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.456216426121287e-4
allele num: 61804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.372539e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1199
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.958579881656805e-4
allele num: 10140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.560534115172568e-4
allele num: 62758
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.504587155963303e-4
allele num: 10900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.452613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.569e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 814
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.411900487304436e-5
allele num: 15596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

DP
type: SiteQuality
SIO_000300: 1.561022e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

VQSLOD
type: SiteQuality
SIO_000300: -4.635e-1

FS
type: SiteQuality
SIO_000300: 5.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.68e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.586792e6

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 9.75e1
variant carriers: 15

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
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: 14
allele frequency: 1.351351351351351e-3
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

QD
type: SiteQuality
SIO_000300: 1.191e1

FS
type: SiteQuality
SIO_000300: 1.987e0

DP
type: SiteQuality
SIO_000300: 1.605045e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.364e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

Other
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: 66114
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 5.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

DP
type: SiteQuality
SIO_000300: 1.610749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.361e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

DP
type: SiteQuality
SIO_000300: 1.612491e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

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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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.617247e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

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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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

DP
type: SiteQuality
SIO_000300: 1.61903e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

DP
type: SiteQuality
SIO_000300: 1.622548e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

FS
type: SiteQuality
SIO_000300: 8.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.277e0

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.622914e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.622691e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 69
allele frequency: 1.039125327550375e-3
allele num: 66402
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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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African
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allele frequency: 0.0e0
allele num: 10382
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South Asian
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allele frequency: 6.150818058801821e-5
allele num: 16258
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66304
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Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
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European (Non-Finnish)
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allele num: 66304
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South Asian
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East Asian
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African
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Other
type: Population
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allele num: 904
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FS
type: SiteQuality
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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Latino
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African
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allele frequency: 0.0e0
allele num: 10380
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.571192e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.053e1

FS
type: SiteQuality
SIO_000300: 3.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.502363e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.5e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3565
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 66
allele frequency: 6.58814134557796e-3
allele num: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60884
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.46969696969697e-5
allele num: 10560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.322903e6

GenotypeQuality
all individuals: 2042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704913560882463e-5
allele num: 58654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.229332e6

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.508e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1