7-2749438-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749438
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749438
    reference: chr 7
allele count: 1
allele frequency: 8.944383821398544e-6
allele num: 111802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.538C>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.936C>G
  hgvsp: ENSP00000308149.4:p.Ile312Met
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.766C>G
  hgvsp: ENSP00000386020.1:p.Arg256Gly
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35649
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile312Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

7-2749438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749438
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749438
    reference: chr 7
allele count: 8
allele frequency: 7.155507057118835e-5
allele num: 111802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.766C>T
  hgvsp: ENSP00000386020.1:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.936C>T
  hgvsp: ENST00000312371.4:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.538C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23407
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg256Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-2749439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749439
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749439
    reference: chr 7
allele count: 7
allele frequency: 6.261516718249637e-5
allele num: 111794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.539G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.767G>A
  hgvsp: ENSP00000386020.1:p.Arg256Gln
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.937G>A
  hgvsp: ENSP00000308149.4:p.Glu313Lys
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23408
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu313Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-2749447-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749447
    reference: chr 7
allele count: 1
allele frequency: 9.118097600116712e-6
allele num: 109672
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.945C>A
  hgvsp: ENSP00000308149.4:p.Tyr315Ter
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.775C>A
  hgvsp: ENSP00000386020.1:p.Pro259Thr
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.547C>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr315Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-2749447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749447
    reference: chr 7
allele count: 1
allele frequency: 9.118097600116712e-6
allele num: 109672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.547C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.775C>T
  hgvsp: ENSP00000386020.1:p.Pro259Ser
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.945C>T
  hgvsp: ENST00000312371.4:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22231
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro259Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-2749448-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749448
    reference: chr 7
allele count: 1
allele frequency: 9.150302875025163e-6
allele num: 109286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.946C>A
  hgvsp: ENSP00000308149.4:p.Gln316Lys
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.776C>A
  hgvsp: ENSP00000386020.1:p.Pro259Gln
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.548C>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln316Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-2749448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749448
    reference: chr 7
allele count: 2
allele frequency: 1.830060575005033e-5
allele num: 109286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.946C>T
  hgvsp: ENSP00000308149.4:p.Gln316Ter
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.776C>T
  hgvsp: ENSP00000386020.1:p.Pro259Leu
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.548C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln316Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/7-2749449-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749449
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749449
    reference: chr 7
allele count: 1
allele frequency: 9.177174531505241e-6
allele num: 108966
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.947A>C
  hgvsp: ENSP00000308149.4:p.Gln316Pro
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.777A>C
  hgvsp: ENST00000407112.1:c.777A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.549A>C
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  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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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln316Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-2749450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749450
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749450
    reference: chr 7
allele count: 1
allele frequency: 9.194725905220765e-6
allele num: 108758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778G>A
  hgvsp: ENSP00000386020.1:p.Glu260Lys
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948G>A
  hgvsp: ENST00000312371.4:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22231
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu260Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-2749451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749451
    reference: chr 7
allele count: 2
allele frequency: 1.851234773593987e-5
allele num: 108036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+1G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+1G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+1G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 6.75e1
  variant carriers: 0
hgvs: c.948+1G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

7-2749460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749460
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749460
    reference: chr 7
allele count: 3
allele frequency: 2.871307976493559e-5
allele num: 104482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+10T>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+10T>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+10T>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  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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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: 3964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-2749463-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749463
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749463
    reference: chr 7
allele count: 1
allele frequency: 9.594166746618056e-6
allele num: 104230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+13G>C
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+13G>C
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+13G>C
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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genotype quality: GenotypeQuality
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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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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: 22969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-2749464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749464
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749464
    reference: chr 7
allele count: 1
allele frequency: 9.621305418719212e-6
allele num: 103936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+14T>C
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+14T>C
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+14T>C
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-2749466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749466
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749466
    reference: chr 7
allele count: 1
allele frequency: 9.755716850074144e-6
allele num: 102504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+16G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+16G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+16G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-2749467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749467
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749467
    reference: chr 7
allele count: 1
allele frequency: 9.800078400627205e-6
allele num: 102040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+17C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+17C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+17C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18849
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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
  all individuals: 18025
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-2749468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749468
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749468
    reference: chr 7
allele count: 186
allele frequency: 1.840017410917437e-3
allele num: 101086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+18G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+18G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+18G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14977
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.75e1
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 4773
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 1
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
  all individuals: 819
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 3
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

7-2749470-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749470
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749470
    reference: chr 7
allele count: 1
allele frequency: 9.870888774825285e-6
allele num: 101308
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+20T>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+20T>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+20T>G
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

7-2749472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749472
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749472
    reference: chr 7
allele count: 1041
allele frequency: 1.033312157547844e-2
allele num: 100744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+22C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+22C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+22C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 7.5e0
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20625
  bin: 1.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 2.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 1.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 2.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15433
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 19808
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 951
num of homozygotes: 46
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-2749474-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749474
    reference: chr 7
allele count: 1
allele frequency: 1.004056387806739e-5
allele num: 99596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+24C>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+24C>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+24C>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

7-2749474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749474
    reference: chr 7
allele count: 24
allele frequency: 2.409735330736174e-4
allele num: 99596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+24C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+24C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+24C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21513
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-2749475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749475
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749475
    reference: chr 7
allele count: 92
allele frequency: 9.272884875118431e-4
allele num: 99214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+25G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+25G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+25G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21877
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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
  all individuals: 2937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20784
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-2749475-GGCTGCTGGGACCTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749475
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749460
    reference: chr 7
allele count: 1
allele frequency: 1.007922269034612e-5
allele num: 99214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: GGCTGCTGGGACCTGC
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

7-2749479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749479
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749479
    reference: chr 7
allele count: 1
allele frequency: 1.03753812952626e-5
allele num: 96382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+29G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+29G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+29G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-2749482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749482
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749482
    reference: chr 7
allele count: 1
allele frequency: 1.042687631639313e-5
allele num: 95906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+32G>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+32G>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+32G>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-2749483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749483
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749483
    reference: chr 7
allele count: 3
allele frequency: 3.140835043343524e-5
allele num: 95516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+33G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+33G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+33G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-2749487-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
allele count: 3
allele frequency: 3.210547719440937e-5
allele num: 93442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+37C>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+37C>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+37C>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-2749487-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
allele count: 1
allele frequency: 1.070182573146979e-5
allele num: 93442
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+37C>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+37C>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+37C>G
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7706
  bin: 3.25e1
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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: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

7-2749487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749487
    reference: chr 7
allele count: 2
allele frequency: 2.140365146293958e-5
allele num: 93442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+37C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+37C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+37C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-2749490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749490
    reference: chr 7
allele count: 1
allele frequency: 1.094235567032871e-5
allele num: 91388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+40C>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+40C>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+40C>G
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-2749490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749490
    reference: chr 7
allele count: 4
allele frequency: 4.376942268131484e-5
allele num: 91388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+40C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+40C>T
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+40C>T
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21791
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-2749491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749491
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749491
    reference: chr 7
allele count: 5
allele frequency: 5.519738585180606e-5
allele num: 90584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+41G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+41G>A
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+41G>A
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21508
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

7-2749493-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749493
    reference: chr 7
allele count: 1
allele frequency: 1.108327976414781e-5
allele num: 90226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+43T>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+43T>G
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+43T>G
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-2749493-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749492
    reference: chr 7
allele count: 4
allele frequency: 4.433311905659123e-5
allele num: 90226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  hgvsc: ENST00000489665.1:n.550+45delC
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  hgvsc: ENST00000312371.4:c.948+45delC
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  hgvsc: ENST00000407112.1:c.778+45delC
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TC
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

7-2749493-TCCGGAGGCCCGCGAGCGCCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2749493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2749472
    reference: chr 7
allele count: 1
allele frequency: 1.108327976414781e-5
allele num: 90226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000308149
  ensembl transcript: ENST00000312371
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl transcript: ENST00000489665
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174945
  ensembl protein: ENSP00000386020
  ensembl transcript: ENST00000407112
  gene symbol: AMZ1
  variant of: http://identifiers.org/hgnc/22231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: TCCGGAGGCCCGCGAGCGCCGC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-117103857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103857
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103857
    reference: chr 9
allele count: 8
allele frequency: 6.597938144329897e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.858C>T
  hgvsp: ENST00000374079.4:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2674C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4023C>T
  hgvsp: ENST00000307564.4:c.4023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2403C>T
  hgvsp: ENST00000223791.3:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4023C>T
  hgvsp: ENST00000374088.3:c.4023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3780C>T
  hgvsp: ENST00000374075.5:c.3780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1341Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-117103859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103859
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103859
    reference: chr 9
allele count: 23
allele frequency: 1.896813353566009e-4
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.856G>T
  hgvsp: ENSP00000363192.4:p.Ala286Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2401G>T
  hgvsp: ENSP00000223791.3:p.Ala801Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3778G>T
  hgvsp: ENSP00000363188.5:p.Ala1260Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4021G>T
  hgvsp: ENSP00000303769.4:p.Ala1341Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2672G>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4021G>T
  hgvsp: ENSP00000363201.3:p.Ala1341Ser
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18241
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12525
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1341Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

9-117103865-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103865
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103865
    reference: chr 9
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4015G>C
  hgvsp: ENSP00000303769.4:p.Ala1339Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4015G>C
  hgvsp: ENSP00000363201.3:p.Ala1339Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3772G>C
  hgvsp: ENSP00000363188.5:p.Ala1258Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2395G>C
  hgvsp: ENSP00000223791.3:p.Ala799Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2666G>C
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.850G>C
  hgvsp: ENSP00000363192.4:p.Ala284Pro
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1339Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

9-117103867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103867
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103867
    reference: chr 9
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3770C>T
  hgvsp: ENSP00000363188.5:p.Pro1257Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2393C>T
  hgvsp: ENSP00000223791.3:p.Pro798Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4013C>T
  hgvsp: ENSP00000303769.4:p.Pro1338Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4013C>T
  hgvsp: ENSP00000363201.3:p.Pro1338Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2664C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.848C>T
  hgvsp: ENSP00000363192.4:p.Pro283Leu
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1338Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-117103870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103870
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103870
    reference: chr 9
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2390C>T
  hgvsp: ENSP00000223791.3:p.Pro797Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4010C>T
  hgvsp: ENSP00000303769.4:p.Pro1337Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3767C>T
  hgvsp: ENSP00000363188.5:p.Pro1256Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4010C>T
  hgvsp: ENSP00000363201.3:p.Pro1337Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2661C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.845C>T
  hgvsp: ENSP00000363192.4:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1337Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-117103872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103872
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103872
    reference: chr 9
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.843C>A
  hgvsp: ENST00000374079.4:c.843C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2659C>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3765C>A
  hgvsp: ENST00000374075.5:c.3765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4008C>A
  hgvsp: ENST00000307564.4:c.4008C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4008C>A
  hgvsp: ENST00000374088.3:c.4008C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2388C>A
  hgvsp: ENST00000223791.3:c.2388C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1336Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/9-117103880-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103880
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103880
    reference: chr 9
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.835G>T
  hgvsp: ENSP00000363192.4:p.Ala279Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2380G>T
  hgvsp: ENSP00000223791.3:p.Ala794Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.4000G>T
  hgvsp: ENSP00000363201.3:p.Ala1334Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.4000G>T
  hgvsp: ENSP00000303769.4:p.Ala1334Ser
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2651G>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3757G>T
  hgvsp: ENSP00000363188.5:p.Ala1253Ser
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1334Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-117103886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103886
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103886
    reference: chr 9
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3751C>G
  hgvsp: ENSP00000363188.5:p.Pro1251Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3994C>G
  hgvsp: ENSP00000363201.3:p.Pro1332Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.829C>G
  hgvsp: ENSP00000363192.4:p.Pro277Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2645C>G
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3994C>G
  hgvsp: ENSP00000303769.4:p.Pro1332Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2374C>G
  hgvsp: ENSP00000223791.3:p.Pro792Ala
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1332Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-117103887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103887
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103887
    reference: chr 9
allele count: 10
allele frequency: 8.250552787036731e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3750G>A
  hgvsp: ENST00000374075.5:c.3750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2644G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.828G>A
  hgvsp: ENST00000374079.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3993G>A
  hgvsp: ENST00000374088.3:c.3993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3993G>A
  hgvsp: ENST00000307564.4:c.3993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2373G>A
  hgvsp: ENST00000223791.3:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1331Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-117103888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103888
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103888
    reference: chr 9
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3749C>T
  hgvsp: ENSP00000363188.5:p.Ala1250Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2372C>T
  hgvsp: ENSP00000223791.3:p.Ala791Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3992C>T
  hgvsp: ENSP00000363201.3:p.Ala1331Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.827C>T
  hgvsp: ENSP00000363192.4:p.Ala276Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3992C>T
  hgvsp: ENSP00000303769.4:p.Ala1331Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2643C>T
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1331Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

9-117103891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103891
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103891
    reference: chr 9
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.824C>T
  hgvsp: ENSP00000363192.4:p.Thr275Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3746C>T
  hgvsp: ENSP00000363188.5:p.Thr1249Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2640C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2369C>T
  hgvsp: ENSP00000223791.3:p.Thr790Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3989C>T
  hgvsp: ENSP00000303769.4:p.Thr1330Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3989C>T
  hgvsp: ENSP00000363201.3:p.Thr1330Ile
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1330Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-117103900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103900
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103900
    reference: chr 9
allele count: 2607
allele frequency: 2.150919111580476e-2
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2360A>G
  hgvsp: ENSP00000223791.3:p.Tyr787Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3980A>G
  hgvsp: ENSP00000363201.3:p.Tyr1327Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3980A>G
  hgvsp: ENSP00000303769.4:p.Tyr1327Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3737A>G
  hgvsp: ENSP00000363188.5:p.Tyr1246Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.815A>G
  hgvsp: ENSP00000363192.4:p.Tyr272Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2631A>G
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 15776
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 601
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7385
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25028
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Tyr1327Cys
num of homozygotes: 288
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-117103910-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103910
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103911
    reference: chr 9
allele count: 3
allele frequency: 2.478765244406253e-5
allele num: 121028
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3969dupC
  hgvsp: ENSP00000363201.3:p.Gly1324ArgfsTer144
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2349dupC
  hgvsp: ENSP00000223791.3:p.Gly784ArgfsTer144
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2620dupC
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.804dupC
  hgvsp: ENSP00000363192.4:p.Gly269ArgfsTer144
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3726dupC
  hgvsp: ENSP00000363188.5:p.Gly1243ArgfsTer144
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3969dupC
  hgvsp: ENSP00000303769.4:p.Gly1324ArgfsTer144
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1324ArgfsTer144
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-117103910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103910
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103910
    reference: chr 9
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3970G>A
  hgvsp: ENSP00000363201.3:p.Gly1324Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3727G>A
  hgvsp: ENSP00000363188.5:p.Gly1243Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.805G>A
  hgvsp: ENSP00000363192.4:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3970G>A
  hgvsp: ENSP00000303769.4:p.Gly1324Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2350G>A
  hgvsp: ENSP00000223791.3:p.Gly784Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2621G>A
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1324Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

9-117103911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103911
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103911
    reference: chr 9
allele count: 2
allele frequency: 1.652619401751776e-5
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2349C>T
  hgvsp: ENST00000223791.3:c.2349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.804C>T
  hgvsp: ENST00000374079.4:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3969C>T
  hgvsp: ENST00000307564.4:c.3969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2620C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3969C>T
  hgvsp: ENST00000374088.3:c.3969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3726C>T
  hgvsp: ENST00000374075.5:c.3726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13357
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro1323Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

9-117103914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103914
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103914
    reference: chr 9
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3723C>T
  hgvsp: ENST00000374075.5:c.3723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2346C>T
  hgvsp: ENST00000223791.3:c.2346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.801C>T
  hgvsp: ENST00000374079.4:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2617C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3966C>T
  hgvsp: ENST00000307564.4:c.3966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3966C>T
  hgvsp: ENST00000374088.3:c.3966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1322Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

9-117103915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103915
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103915
    reference: chr 9
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3722C>T
  hgvsp: ENSP00000363188.5:p.Pro1241Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3965C>T
  hgvsp: ENSP00000303769.4:p.Pro1322Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3965C>T
  hgvsp: ENSP00000363201.3:p.Pro1322Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.800C>T
  hgvsp: ENSP00000363192.4:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2345C>T
  hgvsp: ENSP00000223791.3:p.Pro782Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2616C>T
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1322Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

9-117103918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103918
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103918
    reference: chr 9
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3962C>T
  hgvsp: ENSP00000303769.4:p.Pro1321Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3719C>T
  hgvsp: ENSP00000363188.5:p.Pro1240Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2342C>T
  hgvsp: ENSP00000223791.3:p.Pro781Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2613C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3962C>T
  hgvsp: ENSP00000363201.3:p.Pro1321Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.797C>T
  hgvsp: ENSP00000363192.4:p.Pro266Leu
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Pro1321Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-117103918-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103918
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103918
    reference: chr 9
allele count: 2
allele frequency: 1.652073352056831e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3962C>A
  hgvsp: ENSP00000363201.3:p.Pro1321Gln
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.797C>A
  hgvsp: ENSP00000363192.4:p.Pro266Gln
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2342C>A
  hgvsp: ENSP00000223791.3:p.Pro781Gln
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3719C>A
  hgvsp: ENSP00000363188.5:p.Pro1240Gln
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3962C>A
  hgvsp: ENSP00000303769.4:p.Pro1321Gln
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2613C>A
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13382
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1321Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

9-117103919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103919
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103919
    reference: chr 9
allele count: 4
allele frequency: 3.304310473012045e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2612C>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3718C>A
  hgvsp: ENSP00000363188.5:p.Pro1240Thr
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2341C>A
  hgvsp: ENSP00000223791.3:p.Pro781Thr
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.796C>A
  hgvsp: ENSP00000363192.4:p.Pro266Thr
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3961C>A
  hgvsp: ENSP00000303769.4:p.Pro1321Thr
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3961C>A
  hgvsp: ENSP00000363201.3:p.Pro1321Thr
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1321Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

9-117103920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103920
    reference: chr 9
allele count: 5
allele frequency: 4.132982856387112e-5
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3960C>T
  hgvsp: ENST00000307564.4:c.3960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3960C>T
  hgvsp: ENST00000374088.3:c.3960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2611C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3717C>T
  hgvsp: ENST00000374075.5:c.3717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2340C>T
  hgvsp: ENST00000223791.3:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.795C>T
  hgvsp: ENST00000374079.4:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13388
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1320Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

9-117103921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103921
    reference: chr 9
allele count: 18
allele frequency: 1.488735236708903e-4
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2610G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.794G>A
  hgvsp: ENSP00000363192.4:p.Arg265His
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3959G>A
  hgvsp: ENSP00000303769.4:p.Arg1320His
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2339G>A
  hgvsp: ENSP00000223791.3:p.Arg780His
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3959G>A
  hgvsp: ENSP00000363201.3:p.Arg1320His
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3716G>A
  hgvsp: ENSP00000363188.5:p.Arg1239His
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1320His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

9-117103922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103922
    reference: chr 9
allele count: 4
allele frequency: 3.307206402751596e-5
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2609C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3958C>T
  hgvsp: ENSP00000363201.3:p.Arg1320Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3715C>T
  hgvsp: ENSP00000363188.5:p.Arg1239Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3958C>T
  hgvsp: ENSP00000303769.4:p.Arg1320Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2338C>T
  hgvsp: ENSP00000223791.3:p.Arg780Cys
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.793C>T
  hgvsp: ENSP00000363192.4:p.Arg265Cys
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1320Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

9-117103924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103924
    reference: chr 9
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2607C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3713C>T
  hgvsp: ENSP00000363188.5:p.Pro1238Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3956C>T
  hgvsp: ENSP00000303769.4:p.Pro1319Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3956C>T
  hgvsp: ENSP00000363201.3:p.Pro1319Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.791C>T
  hgvsp: ENSP00000363192.4:p.Pro264Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2336C>T
  hgvsp: ENSP00000223791.3:p.Pro779Leu
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1319Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

9-117103926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103926
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103926
    reference: chr 9
allele count: 45
allele frequency: 3.726152623211447e-4
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3954G>A
  hgvsp: ENST00000307564.4:c.3954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.789G>A
  hgvsp: ENST00000374079.4:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2334G>A
  hgvsp: ENST00000223791.3:c.2334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3954G>A
  hgvsp: ENST00000374088.3:c.3954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3711G>A
  hgvsp: ENST00000374075.5:c.3711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2605G>A
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13421
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1318Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

9-117103929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103929
    reference: chr 9
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3708G>A
  hgvsp: ENST00000374075.5:c.3708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3951G>A
  hgvsp: ENST00000307564.4:c.3951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2331G>A
  hgvsp: ENST00000223791.3:c.2331G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2602G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3951G>A
  hgvsp: ENST00000374088.3:c.3951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.786G>A
  hgvsp: ENST00000374079.4:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13399
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1317Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-117103930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103930
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103930
    reference: chr 9
allele count: 6
allele frequency: 4.972980141232636e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3950C>T
  hgvsp: ENSP00000363201.3:p.Ser1317Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3950C>T
  hgvsp: ENSP00000303769.4:p.Ser1317Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2601C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2330C>T
  hgvsp: ENSP00000223791.3:p.Ser777Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3707C>T
  hgvsp: ENSP00000363188.5:p.Ser1236Leu
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.785C>T
  hgvsp: ENSP00000363192.4:p.Ser262Leu
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13404
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1317Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

9-117103932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103932
    reference: chr 9
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3948G>C
  hgvsp: ENST00000307564.4:c.3948G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.783G>C
  hgvsp: ENST00000374079.4:c.783G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2599G>C
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3948G>C
  hgvsp: ENST00000374088.3:c.3948G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2328G>C
  hgvsp: ENST00000223791.3:c.2328G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3705G>C
  hgvsp: ENST00000374075.5:c.3705G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1316Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-117103932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103932
    reference: chr 9
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3948G>A
  hgvsp: ENST00000307564.4:c.3948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2328G>A
  hgvsp: ENST00000223791.3:c.2328G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3948G>A
  hgvsp: ENST00000374088.3:c.3948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2599G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.783G>A
  hgvsp: ENST00000374079.4:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3705G>A
  hgvsp: ENST00000374075.5:c.3705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13402
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly1316Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

9-117103933-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103933
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103933
    reference: chr 9
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.782G>C
  hgvsp: ENSP00000363192.4:p.Gly261Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3947G>C
  hgvsp: ENSP00000303769.4:p.Gly1316Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2598G>C
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3704G>C
  hgvsp: ENSP00000363188.5:p.Gly1235Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3947G>C
  hgvsp: ENSP00000363201.3:p.Gly1316Ala
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2327G>C
  hgvsp: ENSP00000223791.3:p.Gly776Ala
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1316Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

9-117103935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103935
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103935
    reference: chr 9
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2325G>A
  hgvsp: ENST00000223791.3:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.780G>A
  hgvsp: ENST00000374079.4:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3945G>A
  hgvsp: ENST00000374088.3:c.3945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2596G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3945G>A
  hgvsp: ENST00000307564.4:c.3945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3702G>A
  hgvsp: ENST00000374075.5:c.3702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1315Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-117103936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103936
    reference: chr 9
allele count: 6
allele frequency: 4.980410385815791e-5
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3701C>T
  hgvsp: ENSP00000363188.5:p.Ala1234Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.779C>T
  hgvsp: ENSP00000363192.4:p.Ala260Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2595C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2324C>T
  hgvsp: ENSP00000223791.3:p.Ala775Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3944C>T
  hgvsp: ENSP00000303769.4:p.Ala1315Val
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3944C>T
  hgvsp: ENSP00000363201.3:p.Ala1315Val
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1315Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

9-117103937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103937
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103937
    reference: chr 9
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3943G>C
  hgvsp: ENSP00000303769.4:p.Ala1315Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2594G>C
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3943G>C
  hgvsp: ENSP00000363201.3:p.Ala1315Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3700G>C
  hgvsp: ENSP00000363188.5:p.Ala1234Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2323G>C
  hgvsp: ENSP00000223791.3:p.Ala775Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.778G>C
  hgvsp: ENSP00000363192.4:p.Ala260Pro
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1315Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-117103940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103940
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103940
    reference: chr 9
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3940C>T
  hgvsp: ENSP00000363201.3:p.Gln1314Ter
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3940C>T
  hgvsp: ENSP00000303769.4:p.Gln1314Ter
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2320C>T
  hgvsp: ENSP00000223791.3:p.Gln774Ter
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.775C>T
  hgvsp: ENSP00000363192.4:p.Gln259Ter
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2591C>T
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3697C>T
  hgvsp: ENSP00000363188.5:p.Gln1233Ter
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln1314Ter
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

9-117103945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103945
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103945
    reference: chr 9
allele count: 6
allele frequency: 4.991680532445923e-5
allele num: 120200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3935G>A
  hgvsp: ENSP00000303769.4:p.Ser1312Asn
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.770G>A
  hgvsp: ENSP00000363192.4:p.Ser257Asn
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2586G>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3692G>A
  hgvsp: ENSP00000363188.5:p.Ser1231Asn
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2315G>A
  hgvsp: ENSP00000223791.3:p.Ser772Asn
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3935G>A
  hgvsp: ENSP00000363201.3:p.Ser1312Asn
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1312Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

9-117103957-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103957
    reference: chr 9
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3923C>G
  hgvsp: ENSP00000303769.4:p.Pro1308Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.758C>G
  hgvsp: ENSP00000363192.4:p.Pro253Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3680C>G
  hgvsp: ENSP00000363188.5:p.Pro1227Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3923C>G
  hgvsp: ENSP00000363201.3:p.Pro1308Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2303C>G
  hgvsp: ENSP00000223791.3:p.Pro768Arg
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2574C>G
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1308Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

9-117103962-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103962
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103962
    reference: chr 9
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3675C>A
  hgvsp: ENST00000374075.5:c.3675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.753C>A
  hgvsp: ENST00000374079.4:c.753C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3918C>A
  hgvsp: ENST00000374088.3:c.3918C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3918C>A
  hgvsp: ENST00000307564.4:c.3918C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2569C>A
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2298C>A
  hgvsp: ENST00000223791.3:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1306Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

9-117103973-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103973
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103973
    reference: chr 9
allele count: 63053
allele frequency: 5.319581540538261e-1
allele num: 118530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3907T>C
  hgvsp: ENSP00000303769.4:p.Ser1303Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3664T>C
  hgvsp: ENSP00000363188.5:p.Ser1222Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3907T>C
  hgvsp: ENSP00000363201.3:p.Ser1303Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2287T>C
  hgvsp: ENSP00000223791.3:p.Ser763Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.742T>C
  hgvsp: ENSP00000363192.4:p.Ser248Pro
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2558T>C
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 1319
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 8.75e1
  variant carriers: 2254
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.25e1
  variant carriers: 1175
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.25e1
  variant carriers: 2110
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 9.75e1
  variant carriers: 5739
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 1523
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 3154
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 5.75e1
  variant carriers: 3620
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 1174
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.75e1
  variant carriers: 1002
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 7.25e1
  variant carriers: 3460
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 6.25e1
  variant carriers: 3803
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 7.75e1
  variant carriers: 3029
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.75e1
  variant carriers: 3609
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 8.25e1
  variant carriers: 2627
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 2738
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 1485
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 1800
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 43384
  bin: 9.75e1
  variant carriers: 43005
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.75e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 258
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 9261
  bin: 6.25e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 2.25e1
  variant carriers: 83
hgvs: p.Ser1303Pro
num of homozygotes: 17473
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

9-117103980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103980
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103980
    reference: chr 9
allele count: 1
allele frequency: 8.731946700197342e-6
allele num: 114522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3657A>G
  hgvsp: ENST00000374075.5:c.3657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2280A>G
  hgvsp: ENST00000223791.3:c.2280A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3900A>G
  hgvsp: ENST00000374088.3:c.3900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.735A>G
  hgvsp: ENST00000374079.4:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3900A>G
  hgvsp: ENST00000307564.4:c.3900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2551A>G
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1300Arg
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: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/9-117103981-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117103981
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 117103981
    reference: chr 9
allele count: 1
allele frequency: 8.749978125054688e-6
allele num: 114286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000223791
  ensembl transcript: ENST00000223791
  gene symbol: AKNA
  hgvsc: ENST00000223791.3:c.2279G>T
  hgvsp: ENSP00000223791.3:p.Arg760Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000303769
  ensembl transcript: ENST00000307564
  gene symbol: AKNA
  hgvsc: ENST00000307564.4:c.3899G>T
  hgvsp: ENSP00000303769.4:p.Arg1300Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363192
  ensembl transcript: ENST00000374079
  gene symbol: AKNA
  hgvsc: ENST00000374079.4:c.734G>T
  hgvsp: ENSP00000363192.4:p.Arg245Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363188
  ensembl transcript: ENST00000374075
  gene symbol: AKNA
  hgvsc: ENST00000374075.5:c.3656G>T
  hgvsp: ENSP00000363188.5:p.Arg1219Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106948
  ensembl protein: ENSP00000363201
  ensembl transcript: ENST00000374088
  gene symbol: AKNA
  hgvsc: ENST00000374088.3:c.3899G>T
  hgvsp: ENSP00000363201.3:p.Arg1300Ile
  variant of: http://identifiers.org/hgnc/24108
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106948
  ensembl transcript: ENST00000492875
  gene symbol: AKNA
  hgvsc: ENST00000492875.1:n.2550G>T
  variant of: http://identifiers.org/hgnc/24108
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1300Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618699213312182e-5
allele num: 61778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.441577e6

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 3.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.474796853248729e-5
allele num: 61778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.923323503013207e-4
allele num: 15598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21447656060238e-4
allele num: 8234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 3.52e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.441577e6

QD
type: SiteQuality
SIO_000300: 9.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.427184466019417e-4
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.857355655581102e-5
allele num: 61762
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.122241086587436e-4
allele num: 9424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.439997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 8.614000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.06e1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

GenotypeQuality
all individuals: 1259
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.382894e6

FS
type: SiteQuality
SIO_000300: 9.781000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 1.382894e6

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

FS
type: SiteQuality
SIO_000300: 9.781000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10480
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.827e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 1.373047e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.303101381287464e-4
allele num: 15348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60366
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.373047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.827e0

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6035
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60190
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.084128360797918e-4
allele num: 9224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
SIO_000300: 1.363463e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.523157208088715e-5
allele num: 15330
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.081e0

QD
type: SiteQuality
SIO_000300: 1.256e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.355595e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.092418614813196e-4
allele num: 9154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15260
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.675434775324197e-5
allele num: 59686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.330192e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.380662609871535e-4
allele num: 8874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.099e1

DP
type: SiteQuality
SIO_000300: 1.206485e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737740242588538e-5
allele num: 57546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.193307e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 9.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.317175974710221e-4
allele num: 7592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

QD
type: SiteQuality
SIO_000300: 4.3e0

DP
type: SiteQuality
SIO_000300: 1.180766e6

MQ
type: SiteQuality
SIO_000300: 5.536e1

FS
type: SiteQuality
SIO_000300: 5.251e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.084e0

VQSLOD
type: SiteQuality
SIO_000300: -2.017e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.39e0

DP
type: SiteQuality
SIO_000300: 1.123162e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.773741530384192e-5
allele num: 56378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

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

DP
type: SiteQuality
SIO_000300: 1.121111e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 4.23728813559322e-3
allele num: 708
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.150386948337168e-3
allele num: 9562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.160502667287244e-5
allele num: 55862
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.416233943700465e-4
allele num: 14636
num of homozygotes: 0

African
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allele count: 163
allele frequency: 1.909559512652296e-2
allele num: 8536
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

FS
type: SiteQuality
SIO_000300: 1.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 1.087686e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.142e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55982
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.081579e6

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 5

Latino
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allele count: 48
allele frequency: 5.02828409805154e-3
allele num: 9546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.367614879649891e-4
allele num: 14624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 2
allele frequency: 2.849002849002849e-3
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 7.18803910293272e-4
allele num: 55648
num of homozygotes: 0

African
type: Population
allele count: 949
allele frequency: 1.118049010367578e-1
allele num: 8488
num of homozygotes: 46

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.52e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.078568e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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Latino
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Other
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 21

Latino
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allele frequency: 1.060895395713983e-4
allele num: 9426
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.08782362752919e-4
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African
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South Asian
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East Asian
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Other
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.184316011952482e-3
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East Asian
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Latino
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South Asian
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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Latino
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Other
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QD
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MQ
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DP
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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Latino
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BaseQRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.788739865120861e-5
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Latino
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South Asian
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African
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Other
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East Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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East Asian
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African
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QD
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BaseQRankSum
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FS
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MQ
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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African
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Other
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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QD
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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ClippingRankSum
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FS
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DP
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QD
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MQ
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MQRankSum
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SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.801e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
all individuals: 19268
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13814
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.129328838492185e-4
allele num: 6526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8509e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

DP
type: SiteQuality
SIO_000300: 9.08348e5

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: -7.801e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.239032865209208e-5
allele num: 13814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49810
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

FS
type: SiteQuality
SIO_000300: 1.8509e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: -7.801e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 9.08348e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12507
bin: 9.75e1
variant carriers: 8

East Asian
type: Population
allele count: 8
allele frequency: 9.250693802035153e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
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: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
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: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 3.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.963152e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

GenotypeQuality
all individuals: 2040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.999940001199976e-4
allele num: 66668
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.963875e6

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 25506
bin: 6.25e1
variant carriers: 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: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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: 66658
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.794e0

VQSLOD
type: SiteQuality
SIO_000300: -2.171e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.963614e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.717e0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 7581
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
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: 8650
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: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.963627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 3.298e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.304e0

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 12519
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.963699e6

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.135e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 1688
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

FS
type: SiteQuality
SIO_000300: 2.855e0

DP
type: SiteQuality
SIO_000300: 1.963432e6

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 12566
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.287e0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.53e-2

FS
type: SiteQuality
SIO_000300: 7.726e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.357e0

DP
type: SiteQuality
SIO_000300: 1.965329e6

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.96551e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12565
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 25530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500600240096038e-4
allele num: 66640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.619e0

DP
type: SiteQuality
SIO_000300: 1.965982e6

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12559
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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: 10370
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: 1.965722e6

FS
type: SiteQuality
SIO_000300: 1.268e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -2.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.297e1

MQRankSum
type: SiteQuality
SIO_000300: -1.622e0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12558
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.431e0

FS
type: SiteQuality
SIO_000300: 1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.96588e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13964
bin: 9.75e1
variant carriers: 2287

African
type: Population
allele count: 2450
allele frequency: 2.358036573628489e-1
allele num: 10390
num of homozygotes: 287

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.855855855855856e-4
allele num: 66600
num of homozygotes: 0

Latino
type: Population
allele count: 108
allele frequency: 9.329647546648237e-3
allele num: 11576
num of homozygotes: 1

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

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

Other
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.097e0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.876e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 2.04984e6

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13355
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
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: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.999264e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

FS
type: SiteQuality
SIO_000300: 2.835e0

QD
type: SiteQuality
SIO_000300: 6.0e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 3000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 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: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.999264e6

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 6.0e0

FS
type: SiteQuality
SIO_000300: 2.835e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25014
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.998624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

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

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3002
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 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: 16424
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -7.311e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.836e0

DP
type: SiteQuality
SIO_000300: 1.994792e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13370
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3840
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
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: 8650
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.994655e6

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 1.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13382
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004446580939791e-5
allele num: 66568
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: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.992725e6

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004446580939791e-5
allele num: 66568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 8648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 1.992725e6

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

GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13384
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7368
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
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: 8646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 1.992286e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.016e1

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

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

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
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: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.445884798825975e-4
allele num: 16354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 1.98946e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.262e0

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 3804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13398
bin: 9.75e1
variant carriers: 18

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.734505087881591e-3
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: 6566
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 3.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.990108e6

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 24854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13400
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1618
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

QD
type: SiteQuality
SIO_000300: 1.005e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 1.988825e6

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

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

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 7299
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variant carriers: 0

GenotypeQuality
all individuals: 24853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 66506
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.98717e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 1.583e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 7171
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 3776
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variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.132420091324201e-4
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.26585020912948e-4
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.158e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

DP
type: SiteQuality
SIO_000300: 1.985292e6

FS
type: SiteQuality
SIO_000300: 1.127e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 7160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
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variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009691205682297e-5
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.980131e6

FS
type: SiteQuality
SIO_000300: 3.035e0

QD
type: SiteQuality
SIO_000300: 1.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e0

GenotypeQuality
all individuals: 24245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 7119
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variant carriers: 0

GenotypeQuality
all individuals: 3778
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GenotypeQuality
all individuals: 2956
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010325416177489e-5
allele num: 66438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 1.976846e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 2013
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variant carriers: 0

GenotypeQuality
all individuals: 24411
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GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 2961
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 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: 906
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 5.655e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

DP
type: SiteQuality
SIO_000300: 1.975699e6

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 24411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 277
bin: 2.75e1
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GenotypeQuality
all individuals: 888
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 3764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010959894014212e-5
allele num: 66424
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 5.655e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.975699e6

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 2.488e0

DP
type: SiteQuality
SIO_000300: 1.974716e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.501e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
all individuals: 24210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012774162448783e-5
allele num: 66384
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 1.658e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.9715e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.873e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13412
bin: 9.75e1
variant carriers: 6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.939625260235947e-4
allele num: 8646
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.522e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.129e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 1.971114e6

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

GenotypeQuality
all individuals: 3147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13410
bin: 9.75e1
variant carriers: 1

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: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.967645e6

FS
type: SiteQuality
SIO_000300: 1.342e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.22e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 6.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

GenotypeQuality
all individuals: 6965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13409
bin: 9.75e1
variant carriers: 1

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: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.464e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 1.967079e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2011
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13416
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.045680687471733e-5
allele num: 66330
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: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.959808e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.702e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13422
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 2.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

DP
type: SiteQuality
SIO_000300: 1.939056e6

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21837
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3691
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026542780182198e-5
allele num: 66082
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.468e-1

FS
type: SiteQuality
SIO_000300: 4.899e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 7.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

DP
type: SiteQuality
SIO_000300: 1.930714e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 138

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 244

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 194

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 156

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 152

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 210

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 277

GenotypeQuality
all individuals: 1997
bin: 6.75e1
variant carriers: 254

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 255

European (Finnish)
type: Population
allele count: 3865
allele frequency: 5.918836140888208e-1
allele num: 6530
num of homozygotes: 1147

South Asian
type: Population
allele count: 6419
allele frequency: 4.373211609211064e-1
allele num: 14678
num of homozygotes: 1400

Latino
type: Population
allele count: 6349
allele frequency: 5.504595110109243e-1
allele num: 11534
num of homozygotes: 1779

Other
type: Population
allele count: 433
allele frequency: 4.965596330275229e-1
allele num: 872
num of homozygotes: 105

African
type: Population
allele count: 8750
allele frequency: 8.432922127987664e-1
allele num: 10376
num of homozygotes: 3696

European (Non-Finnish)
type: Population
allele count: 32151
allele frequency: 4.877719452620081e-1
allele num: 65914
num of homozygotes: 7862

East Asian
type: Population
allele count: 5086
allele frequency: 5.89612798516114e-1
allele num: 8626
num of homozygotes: 1484

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 3.326172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.62e-2

QD
type: SiteQuality
SIO_000300: 2.141e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

FS
type: SiteQuality
SIO_000300: 2.185e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 2126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 608
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.127438231469441e-5
allele num: 12304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

QD
type: SiteQuality
SIO_000300: 1.578e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.609869e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.235875473562839e-5
allele num: 12142
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: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.616e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.60831e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4