14-105404713-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404713
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404713
    reference: chr 14
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17203A>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17075A>T
  hgvsp: ENSP00000353114.4:p.Glu5692Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2069A>T
  hgvsp: ENSP00000450998.1:p.Glu690Val
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu5692Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

14-105404716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404716
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404716
    reference: chr 14
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17200A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17072A>G
  hgvsp: ENSP00000353114.4:p.Gln5691Arg
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2066A>G
  hgvsp: ENSP00000450998.1:p.Gln689Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7968
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln5691Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

14-105404729-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404729
    reference: chr 14
allele count: 1
allele frequency: 8.360784576024614e-6
allele num: 119606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2053C>G
  hgvsp: ENSP00000450998.1:p.Leu685Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17187C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17059C>G
  hgvsp: ENSP00000353114.4:p.Leu5687Val
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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
  all individuals: 1031
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
  all individuals: 658
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu5687Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

14-105404737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404737
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404737
    reference: chr 14
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17051A>G
  hgvsp: ENSP00000353114.4:p.Glu5684Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17179A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2045A>G
  hgvsp: ENSP00000450998.1:p.Glu682Gly
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  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
  all individuals: 589
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 959
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40024
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genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu5684Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

14-105404738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404738
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404738
    reference: chr 14
allele count: 3
allele frequency: 2.507941815749874e-5
allele num: 119620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17178G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17050G>A
  hgvsp: ENSP00000353114.4:p.Glu5684Lys
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2044G>A
  hgvsp: ENSP00000450998.1:p.Glu682Lys
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu5684Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

14-105404741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404741
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404741
    reference: chr 14
allele count: 2
allele frequency: 1.672073036150219e-5
allele num: 119612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17175C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17047C>T
  hgvsp: ENSP00000353114.4:p.Pro5683Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2041C>T
  hgvsp: ENSP00000450998.1:p.Pro681Ser
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro5683Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-105404743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404743
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404743
    reference: chr 14
allele count: 3
allele frequency: 2.508738773393989e-5
allele num: 119582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17045G>A
  hgvsp: ENSP00000353114.4:p.Arg5682Gln
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17173G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2039G>A
  hgvsp: ENSP00000450998.1:p.Arg680Gln
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg5682Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-105404744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404744
    reference: chr 14
allele count: 3
allele frequency: 2.50899054946893e-5
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2038C>T
  hgvsp: ENSP00000450998.1:p.Arg680Ter
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17172C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17044C>T
  hgvsp: ENSP00000353114.4:p.Arg5682Ter
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg5682Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105404744-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404744
    reference: chr 14
allele count: 4
allele frequency: 3.34532073262524e-5
allele num: 119570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2038C>A
  hgvsp: ENST00000557457.1:c.2038C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17172C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17044C>A
  hgvsp: ENST00000333244.5:c.17044C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg5682Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

14-105404768-GAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404765
    reference: chr 14
allele count: 9
allele frequency: 7.532011046949536e-5
allele num: 119490
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17017_17019delGCT
  hgvsp: ENSP00000353114.4:p.Ala5673del
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17145_17147delGCT
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2011_2013delGCT
  hgvsp: ENSP00000450998.1:p.Ala671del
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26636
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7691
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala5673del
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: GAGC
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-105404769-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404769
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404769
    reference: chr 14
allele count: 1
allele frequency: 8.368060785593547e-6
allele num: 119502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17019T>G
  hgvsp: ENST00000333244.5:c.17019T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17147T>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2013T>G
  hgvsp: ENST00000557457.1:c.2013T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala5673Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

14-105404770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404770
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404770
    reference: chr 14
allele count: 2
allele frequency: 1.674312694638851e-5
allele num: 119452
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17018C>T
  hgvsp: ENSP00000353114.4:p.Ala5673Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2012C>T
  hgvsp: ENSP00000450998.1:p.Ala671Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17146C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala5673Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

14-105404775-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404775
    reference: chr 14
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2007A>C
  hgvsp: ENSP00000450998.1:p.Arg669Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17013A>C
  hgvsp: ENSP00000353114.4:p.Arg5671Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17141A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg5671Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

14-105404781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404781
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404781
    reference: chr 14
allele count: 2
allele frequency: 1.67549091883922e-5
allele num: 119368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17007C>T
  hgvsp: ENST00000333244.5:c.17007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17135C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.2001C>T
  hgvsp: ENST00000557457.1:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val5669Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-105404783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404783
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404783
    reference: chr 14
allele count: 2
allele frequency: 1.676108745935436e-5
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17005G>A
  hgvsp: ENSP00000353114.4:p.Val5669Ile
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1999G>A
  hgvsp: ENSP00000450998.1:p.Val667Ile
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17133G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22052
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val5669Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

14-105404784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404784
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404784
    reference: chr 14
allele count: 15
allele frequency: 1.257397689741311e-4
allele num: 119294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17132C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17004C>T
  hgvsp: ENST00000333244.5:c.17004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1998C>T
  hgvsp: ENST00000557457.1:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22034
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Asp5668Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

14-105404787-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404787
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404788
    reference: chr 14
allele count: 1
allele frequency: 8.384759860477596e-6
allele num: 119264
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.17000dupA
  hgvsp: ENSP00000353114.4:p.Asn5667LysfsTer2
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1994dupA
  hgvsp: ENSP00000450998.1:p.Asn665LysfsTer2
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17128dupA
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn5667LysfsTer2
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

14-105404797-T-TCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404797
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404800
    reference: chr 14
allele count: 3
allele frequency: 2.52028832098392e-5
allele num: 119034
alternate allele: TCAA
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16988_16990dupTTG
  hgvsp: ENSP00000353114.4:p.Val5663dup
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1982_1984dupTTG
  hgvsp: ENSP00000450998.1:p.Val661dup
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17116_17118dupTTG
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26245
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val5663dup
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

14-105404802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404802
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404802
    reference: chr 14
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16986T>C
  hgvsp: ENST00000333244.5:c.16986T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1980T>C
  hgvsp: ENST00000557457.1:c.1980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17114T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly5662Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

14-105404803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404803
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404803
    reference: chr 14
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16985G>C
  hgvsp: ENSP00000353114.4:p.Gly5662Ala
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17113G>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1979G>C
  hgvsp: ENSP00000450998.1:p.Gly660Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly5662Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-105404804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404804
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404804
    reference: chr 14
allele count: 1
allele frequency: 8.411277841329655e-6
allele num: 118888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17112G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1978G>A
  hgvsp: ENSP00000450998.1:p.Gly660Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16984G>A
  hgvsp: ENSP00000353114.4:p.Gly5662Ser
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly5662Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

14-105404807-T-TGCGGATGTCACCATCACTCTGGAGTCCAGCCCAGTGCCCACAGGCCCGATCAGTTCACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404807
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404866
    reference: chr 14
allele count: 1
allele frequency: 8.417366710998132e-6
allele num: 118802
alternate allele: TGCGGATGTCACCATCACTCTGGAGTCCAGCCCAGTGCCCACAGGCCCGATCAGTTCACC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsp: ENSP00000353114.4:p.Thr5661GlyfsTer62
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsp: ENSP00000450998.1:p.Thr659GlyfsTer62
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr5661GlyfsTer62
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

14-105404811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404811
    reference: chr 14
allele count: 4
allele frequency: 3.370123852051563e-5
allele num: 118690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1971T>C
  hgvsp: ENST00000557457.1:c.1971T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17105T>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16977T>C
  hgvsp: ENST00000333244.5:c.16977T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asp5659Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-105404820-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404820
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404820
    reference: chr 14
allele count: 1
allele frequency: 8.446802040747373e-6
allele num: 118388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1962T>G
  hgvsp: ENST00000557457.1:c.1962T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17096T>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16968T>G
  hgvsp: ENST00000333244.5:c.16968T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 580
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genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38358
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 333
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genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser5656Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-105404833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404833
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404833
    reference: chr 14
allele count: 1
allele frequency: 8.482771491101573e-6
allele num: 117886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17083T>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1949T>C
  hgvsp: ENSP00000450998.1:p.Ile650Thr
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16955T>C
  hgvsp: ENSP00000353114.4:p.Ile5652Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile5652Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

14-105404855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404855
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404855
    reference: chr 14
allele count: 3
allele frequency: 2.571707785416702e-5
allele num: 116654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1927C>T
  hgvsp: ENSP00000450998.1:p.Leu643Phe
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16933C>T
  hgvsp: ENSP00000353114.4:p.Leu5645Phe
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17061C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19239
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu5645Phe
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-105404856-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404856
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404856
    reference: chr 14
allele count: 3
allele frequency: 2.573958404832178e-5
allele num: 116552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16932G>C
  hgvsp: ENST00000333244.5:c.16932G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17060G>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1926G>C
  hgvsp: ENST00000557457.1:c.1926G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19842
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu5644Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105404860-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404860
    reference: chr 14
allele count: 3
allele frequency: 2.577319587628866e-5
allele num: 116400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16928G>T
  hgvsp: ENSP00000353114.4:p.Gly5643Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1922G>T
  hgvsp: ENSP00000450998.1:p.Gly641Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17056G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 331
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly5643Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-105404865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404865
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404865
    reference: chr 14
allele count: 1
allele frequency: 8.60733344809778e-6
allele num: 116180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17051A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16923A>G
  hgvsp: ENST00000333244.5:c.16923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1917A>G
  hgvsp: ENST00000557457.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys5641Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-105404866-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404866
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404866
    reference: chr 14
allele count: 1
allele frequency: 8.604222952625148e-6
allele num: 116222
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16922A>C
  hgvsp: ENSP00000353114.4:p.Lys5641Thr
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17050A>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1916A>C
  hgvsp: ENSP00000450998.1:p.Lys639Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys5641Thr
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: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-105404882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404882
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404882
    reference: chr 14
allele count: 1
allele frequency: 8.630510581005972e-6
allele num: 115868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16906A>G
  hgvsp: ENSP00000353114.4:p.Lys5636Glu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1900A>G
  hgvsp: ENSP00000450998.1:p.Lys634Glu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17034A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17318
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys5636Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-105404884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404884
    reference: chr 14
allele count: 3
allele frequency: 2.590539350292731e-5
allele num: 115806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1898A>G
  hgvsp: ENSP00000450998.1:p.Asp633Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17032A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16904A>G
  hgvsp: ENSP00000353114.4:p.Asp5635Gly
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17247
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
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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: 1341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp5635Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-105404892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404892
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404892
    reference: chr 14
allele count: 1
allele frequency: 8.645732466454558e-6
allele num: 115664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16896T>C
  hgvsp: ENST00000333244.5:c.16896T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1890T>C
  hgvsp: ENST00000557457.1:c.1890T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17024T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala5632Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

14-105404897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404897
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404897
    reference: chr 14
allele count: 1
allele frequency: 8.654262224145391e-6
allele num: 115550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17019A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1885A>G
  hgvsp: ENSP00000450998.1:p.Arg629Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16891A>G
  hgvsp: ENSP00000353114.4:p.Arg5631Gly
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg5631Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-105404899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404899
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404899
    reference: chr 14
allele count: 1
allele frequency: 8.655610566769381e-6
allele num: 115532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17017G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1883G>A
  hgvsp: ENSP00000450998.1:p.Gly628Asp
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16889G>A
  hgvsp: ENSP00000353114.4:p.Gly5630Asp
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly5630Asp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

14-105404916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404916
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404916
    reference: chr 14
allele count: 2
allele frequency: 1.735900151023313e-5
allele num: 115214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.17000A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16872A>G
  hgvsp: ENST00000333244.5:c.16872A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1866A>G
  hgvsp: ENST00000557457.1:c.1866A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 795
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr5624Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

14-105404923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404923
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404923
    reference: chr 14
allele count: 3
allele frequency: 2.609921180380353e-5
allele num: 114946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16865C>T
  hgvsp: ENSP00000353114.4:p.Ala5622Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1859C>T
  hgvsp: ENSP00000450998.1:p.Ala620Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16993C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24284
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genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1498
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala5622Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-105404929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404929
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404929
    reference: chr 14
allele count: 3
allele frequency: 2.612921769122232e-5
allele num: 114814
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16859A>G
  hgvsp: ENSP00000353114.4:p.Gln5620Arg
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16987A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1853A>G
  hgvsp: ENSP00000450998.1:p.Gln618Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln5620Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

14-105404929-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404929
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404929
    reference: chr 14
allele count: 2
allele frequency: 1.741947846081488e-5
allele num: 114814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1853A>C
  hgvsp: ENSP00000450998.1:p.Gln618Pro
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16859A>C
  hgvsp: ENSP00000353114.4:p.Gln5620Pro
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16987A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln5620Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

14-105404931-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404931
    reference: chr 14
allele count: 9
allele frequency: 7.851347814708192e-5
allele num: 114630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16985C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16857C>A
  hgvsp: ENSP00000353114.4:p.Ser5619Arg
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1851C>A
  hgvsp: ENSP00000450998.1:p.Ser617Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser5619Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

14-105404944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404944
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404944
    reference: chr 14
allele count: 38
allele frequency: 3.330120059591622e-4
allele num: 114110
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16844C>T
  hgvsp: ENSP00000353114.4:p.Pro5615Leu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1838C>T
  hgvsp: ENSP00000450998.1:p.Pro613Leu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16972C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15637
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro5615Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-105404976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404976
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404976
    reference: chr 14
allele count: 300
allele frequency: 2.662643117067542e-3
allele num: 112670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16940A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16812A>G
  hgvsp: ENST00000333244.5:c.16812A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1806A>G
  hgvsp: ENST00000557457.1:c.1806A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 10212
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18269
  bin: 2.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 2.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22434
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ser5604Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-105404985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404985
    reference: chr 14
allele count: 1
allele frequency: 8.880994671403197e-6
allele num: 112600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1797C>G
  hgvsp: ENSP00000450998.1:p.Asp599Glu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16931C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16803C>G
  hgvsp: ENSP00000353114.4:p.Asp5601Glu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp5601Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

14-105404985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105404985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105404985
    reference: chr 14
allele count: 1
allele frequency: 8.880994671403197e-6
allele num: 112600
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16803C>A
  hgvsp: ENSP00000353114.4:p.Asp5601Glu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1797C>A
  hgvsp: ENSP00000450998.1:p.Asp599Glu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16931C>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18796
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp5601Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-105405001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405001
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405001
    reference: chr 14
allele count: 1
allele frequency: 8.894897886572263e-6
allele num: 112424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16915G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1781G>A
  hgvsp: ENSP00000450998.1:p.Gly594Asp
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16787G>A
  hgvsp: ENSP00000353114.4:p.Gly5596Asp
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Gly5596Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

14-105405007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405007
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405007
    reference: chr 14
allele count: 1
allele frequency: 8.876107294384975e-6
allele num: 112662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16909C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16781C>T
  hgvsp: ENSP00000353114.4:p.Pro5594Leu
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1775C>T
  hgvsp: ENSP00000450998.1:p.Pro592Leu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro5594Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

14-105405018-TGTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405018
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405014
    reference: chr 14
allele count: 1
allele frequency: 8.837201081673412e-6
allele num: 113158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16766_16769delTCAC
  hgvsp: ENSP00000353114.4:p.Leu5589HisfsTer113
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16894_16897delTCAC
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1760_1763delTCAC
  hgvsp: ENSP00000450998.1:p.Leu587HisfsTer113
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu5589HisfsTer113
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: TGTGA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

14-105405020-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405020
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405018
    reference: chr 14
allele count: 1
allele frequency: 8.833922261484099e-6
allele num: 113200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1760_1761delTC
  hgvsp: ENSP00000450998.1:p.Leu587HisfsTer3
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16894_16895delTC
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16766_16767delTC
  hgvsp: ENSP00000353114.4:p.Leu5589HisfsTer3
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu5589HisfsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: TGA
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-105405021-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405021
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405021
    reference: chr 14
allele count: 1
allele frequency: 8.83220575506527e-6
allele num: 113222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16895C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1761C>A
  hgvsp: ENST00000557457.1:c.1761C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16767C>A
  hgvsp: ENST00000333244.5:c.16767C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu5589Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105405025-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405025
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405024
    reference: chr 14
allele count: 3
allele frequency: 2.646622909167902e-5
allele num: 113352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16762delA
  hgvsp: ENSP00000353114.4:p.Thr5588HisfsTer115
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1756delA
  hgvsp: ENSP00000450998.1:p.Thr586HisfsTer115
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16890delA
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr5588HisfsTer115
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GT
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

14-105405026-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405026
    reference: chr 14
allele count: 1
allele frequency: 8.80374687466986e-6
allele num: 113588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1756A>T
  hgvsp: ENSP00000450998.1:p.Thr586Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16762A>T
  hgvsp: ENSP00000353114.4:p.Thr5588Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16890A>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr5588Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-105405030-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405030
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405029
    reference: chr 14
allele count: 1
allele frequency: 8.805762490974094e-6
allele num: 113562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16885delA
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16757delA
  hgvsp: ENSP00000353114.4:p.Gln5586ArgfsTer117
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1751delA
  hgvsp: ENSP00000450998.1:p.Gln584ArgfsTer117
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln5586ArgfsTer117
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: CT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105405038-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405038
    reference: chr 14
allele count: 1
allele frequency: 8.750284384242488e-6
allele num: 114282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16750C>G
  hgvsp: ENSP00000353114.4:p.Leu5584Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16878C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1744C>G
  hgvsp: ENSP00000450998.1:p.Leu582Val
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu5584Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

14-105405042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405042
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405042
    reference: chr 14
allele count: 11
allele frequency: 9.593748364701983e-5
allele num: 114658
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16746T>C
  hgvsp: ENST00000333244.5:c.16746T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16874T>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1740T>C
  hgvsp: ENST00000557457.1:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13314
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn5582Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-105405047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405047
    reference: chr 14
allele count: 17
allele frequency: 1.480062685007836e-4
allele num: 114860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16741G>A
  hgvsp: ENSP00000353114.4:p.Val5581Ile
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1735G>A
  hgvsp: ENSP00000450998.1:p.Val579Ile
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16869G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13778
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29292
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val5581Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-105405048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405048
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405048
    reference: chr 14
allele count: 1
allele frequency: 8.696105883785241e-6
allele num: 114994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1734C>T
  hgvsp: ENST00000557457.1:c.1734C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16740C>T
  hgvsp: ENST00000333244.5:c.16740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16868C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser5580Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105405054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405054
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405054
    reference: chr 14
allele count: 1
allele frequency: 8.616826939647745e-6
allele num: 116052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1728T>C
  hgvsp: ENST00000557457.1:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16734T>C
  hgvsp: ENST00000333244.5:c.16734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16862T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser5578Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

14-105405057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405057
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405057
    reference: chr 14
allele count: 5
allele frequency: 4.295680263926596e-5
allele num: 116396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1725C>T
  hgvsp: ENST00000557457.1:c.1725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16859C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16731C>T
  hgvsp: ENST00000333244.5:c.16731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32345
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile5577Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-105405060-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405060
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405060
    reference: chr 14
allele count: 1
allele frequency: 8.568392912225382e-6
allele num: 116708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16728G>T
  hgvsp: ENSP00000353114.4:p.Met5576Ile
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16856G>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1722G>T
  hgvsp: ENSP00000450998.1:p.Met574Ile
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met5576Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

14-105405070-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405070
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405070
    reference: chr 14
allele count: 4
allele frequency: 3.397777853283952e-5
allele num: 117724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16846C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16718C>A
  hgvsp: ENSP00000353114.4:p.Pro5573Gln
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1712C>A
  hgvsp: ENSP00000450998.1:p.Pro571Gln
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 749
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genotype quality: GenotypeQuality
  all individuals: 4589
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro5573Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

14-105405071-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405071
    reference: chr 14
allele count: 4
allele frequency: 3.396047001290498e-5
allele num: 117784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16845C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1711C>A
  hgvsp: ENSP00000450998.1:p.Pro571Thr
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16717C>A
  hgvsp: ENSP00000353114.4:p.Pro5573Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34380
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
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genotype quality: GenotypeQuality
  all individuals: 44101
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 315
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genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro5573Thr
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

14-105405071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405071
    reference: chr 14
allele count: 5
allele frequency: 4.245058751613123e-5
allele num: 117784
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16717C>T
  hgvsp: ENSP00000353114.4:p.Pro5573Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1711C>T
  hgvsp: ENSP00000450998.1:p.Pro571Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16845C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro5573Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

14-105405076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405076
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405076
    reference: chr 14
allele count: 27
allele frequency: 2.284418573169081e-4
allele num: 118192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16840G>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1706G>C
  hgvsp: ENSP00000450998.1:p.Gly569Ala
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16712G>C
  hgvsp: ENSP00000353114.4:p.Gly5571Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly5571Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105405078-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405078
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405078
    reference: chr 14
allele count: 1
allele frequency: 8.446802040747373e-6
allele num: 118388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16710T>G
  hgvsp: ENST00000333244.5:c.16710T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16838T>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1704T>G
  hgvsp: ENST00000557457.1:c.1704T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr5570Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

14-105405081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405081
    reference: chr 14
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1701C>T
  hgvsp: ENST00000557457.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16835C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16707C>T
  hgvsp: ENST00000333244.5:c.16707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp5569Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-105405086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405086
    reference: chr 14
allele count: 2
allele frequency: 1.681350460690026e-5
allele num: 118952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1696C>T
  hgvsp: ENSP00000450998.1:p.Pro566Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16830C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16702C>T
  hgvsp: ENSP00000353114.4:p.Pro5568Ser
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro5568Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-105405087-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405087
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405087
    reference: chr 14
allele count: 4
allele frequency: 3.359819913652629e-5
allele num: 119054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16829G>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16701G>C
  hgvsp: ENSP00000353114.4:p.Gln5567His
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1695G>C
  hgvsp: ENSP00000450998.1:p.Gln565His
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln5567His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105405087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405087
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405087
    reference: chr 14
allele count: 4
allele frequency: 3.359819913652629e-5
allele num: 119054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16701G>A
  hgvsp: ENST00000333244.5:c.16701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1695G>A
  hgvsp: ENST00000557457.1:c.1695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16829G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln5567Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-105405090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405090
    reference: chr 14
allele count: 436
allele frequency: 3.654774678111588e-3
allele num: 119296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1692C>T
  hgvsp: ENST00000557457.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16698C>T
  hgvsp: ENST00000333244.5:c.16698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16826C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35199
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46822
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 427
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu5566Leu
num of homozygotes: 7
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105405090-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405090
    reference: chr 14
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16826C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16698C>G
  hgvsp: ENST00000333244.5:c.16698C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1692C>G
  hgvsp: ENST00000557457.1:c.1692C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu5566Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-105405093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405093
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405093
    reference: chr 14
allele count: 119
allele frequency: 9.963828789604126e-4
allele num: 119432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16695T>C
  hgvsp: ENST00000333244.5:c.16695T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1689T>C
  hgvsp: ENST00000557457.1:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16823T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17514
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 35353
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 9.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47275
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp5565Asp
num of homozygotes: 1
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-105405106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405106
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405106
    reference: chr 14
allele count: 2
allele frequency: 1.669170422300117e-5
allele num: 119820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16682C>T
  hgvsp: ENSP00000353114.4:p.Ser5561Phe
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16810C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1676C>T
  hgvsp: ENSP00000450998.1:p.Ser559Phe
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser5561Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105405110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405110
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405110
    reference: chr 14
allele count: 9
allele frequency: 7.506756080472425e-5
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1672G>A
  hgvsp: ENSP00000450998.1:p.Asp558Asn
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16678G>A
  hgvsp: ENSP00000353114.4:p.Asp5560Asn
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16806G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp5560Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-105405112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405112
    reference: chr 14
allele count: 16
allele frequency: 1.334156062905458e-4
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1670T>C
  hgvsp: ENSP00000450998.1:p.Val557Ala
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16804T>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16676T>C
  hgvsp: ENSP00000353114.4:p.Val5559Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val5559Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

14-105405139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405139
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405139
    reference: chr 14
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16649A>G
  hgvsp: ENSP00000353114.4:p.Glu5550Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1643A>G
  hgvsp: ENSP00000450998.1:p.Glu548Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16777A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48314
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu5550Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-105405158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105405158
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105405158
    reference: chr 14
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.16630A>G
  hgvsp: ENSP00000353114.4:p.Thr5544Ala
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.16758A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.1624A>G
  hgvsp: ENSP00000450998.1:p.Thr542Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr5544Ala
num of homozygotes: 0
population: East Asian
reference allele: T

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 5.868e1

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -2.4e0

DP
type: SiteQuality
SIO_000300: 1.602716e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 8.48e0

VQSLOD
type: SiteQuality
SIO_000300: -6.510000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

DP
type: SiteQuality
SIO_000300: 1.602531e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 644
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 2.747e0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.783e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.600401e6

GenotypeQuality
all individuals: 543
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.601568e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.192e0

QD
type: SiteQuality
SIO_000300: 1.465e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
all individuals: 958
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 3.095336359884441e-4
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.773e0

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 1.699e1

DP
type: SiteQuality
SIO_000300: 1.601529e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e0

FS
type: SiteQuality
SIO_000300: 1.1218e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 1.602447e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.632999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -8.239e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.417e0

ReadPosRankSum
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 1.031778786628147e-4
allele num: 9692
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.220554131575735e-4
allele num: 16386
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
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allele frequency: 6.105006105006105e-5
allele num: 16380
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European (Non-Finnish)
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allele frequency: 1.515335192144502e-5
allele num: 65992
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.032204789430223e-4
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Other
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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European (Non-Finnish)
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allele frequency: 6.06134076857801e-5
allele num: 65992
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Latino
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East Asian
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African
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele frequency: 9.345794392523365e-4
allele num: 8560
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.516576177621402e-5
allele num: 65938
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ClippingRankSum
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QD
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FS
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VQSLOD
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DP
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MQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11462
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 6.110975311659741e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.602936e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.069108214359611e-4
allele num: 9666
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65912
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.117704637220115e-5
allele num: 16346
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.035914872946963e-5
allele num: 65878
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African
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allele frequency: 0.0e0
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Other
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South Asian
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65858
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African
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allele frequency: 0.0e0
allele num: 9664
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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East Asian
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Other
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Latino
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allele frequency: 1.749475157452764e-4
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South Asian
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 2.27811190085657e-4
allele num: 65844
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South Asian
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Other
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65830
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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QD
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DP
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 4.566071048065508e-5
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European (Finnish)
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East Asian
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Other
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BaseQRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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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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Other
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South Asian
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ClippingRankSum
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Other
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.637e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65620
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9624
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South Asian
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allele frequency: 6.147792942333702e-5
allele num: 16266
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 1.58237e6

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

East Asian
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allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525413387027885e-5
allele num: 65556
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.577876e6

MQRankSum
type: SiteQuality
SIO_000300: -2.18e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.10593802472905e-5
allele num: 65510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
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SIO_000300: 5.97e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.570821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65338
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.174364040503828e-5
allele num: 16196
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8448
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
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SIO_000300: 1.553927e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.309e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

FS
type: SiteQuality
SIO_000300: 3.851e0

DP
type: SiteQuality
SIO_000300: 1.52337e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15954
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9364
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.553470452991984e-5
allele num: 64372
num of homozygotes: 0

MQ
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VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.460512e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.665049449524165e-5
allele num: 64308
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.457341e6

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64240
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.616200578592093e-4
allele num: 8296
num of homozygotes: 0

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

Other
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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
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.054e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

South Asian
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

South Asian
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allele frequency: 6.293266205160478e-5
allele num: 15890
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64140
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
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allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

African
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allele frequency: 3.2481593763534e-4
allele num: 9236
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 876
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63928
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele num: 63860
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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East Asian
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Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8282
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.567348985925206e-5
allele num: 63802
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.438094e6

VQSLOD
type: SiteQuality
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QD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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African
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allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63782
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East Asian
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8272
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Latino
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allele count: 2
allele frequency: 1.806684733514002e-4
allele num: 11070
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9130
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63640
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.067e0

DP
type: SiteQuality
SIO_000300: 1.433572e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8278
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Latino
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15684
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63508
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.293084522502744e-4
allele num: 9110
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Other
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.425932e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.287e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 2.197319270490002e-4
allele num: 9102
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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.576590780097118e-5
allele num: 63428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 1.415374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.505e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.153181560194236e-5
allele num: 63428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6496
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9102
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.415374e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 4.347e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63338
num of homozygotes: 0

Other
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allele count: 0
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South Asian
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allele count: 7
allele frequency: 4.471700523827776e-4
allele num: 15654
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African
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allele count: 2
allele frequency: 2.203128442388191e-4
allele num: 9078
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FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.295e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.410077e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

Latino
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allele count: 4
allele frequency: 3.675794890645102e-4
allele num: 10882
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 2
allele frequency: 2.352941176470588e-3
allele num: 850
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East Asian
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African
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allele count: 10
allele frequency: 1.104484205875856e-3
allele num: 9054
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European (Non-Finnish)
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allele count: 22
allele frequency: 3.489737000729672e-4
allele num: 63042
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.37028e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 21
allele frequency: 3.258845437616387e-3
allele num: 6444
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South Asian
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allele frequency: 2.593360995850622e-4
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African
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allele count: 5
allele frequency: 5.565449688334817e-4
allele num: 8984
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European (Non-Finnish)
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allele count: 256
allele frequency: 4.115887970674298e-3
allele num: 62198
num of homozygotes: 0

Latino
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allele frequency: 1.218597675290589e-3
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East Asian
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Other
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.233654083395016e-4
allele num: 8106
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele num: 10618
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

East Asian
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South Asian
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Latino
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Other
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African
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European (Non-Finnish)
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allele frequency: 1.6069936363052e-5
allele num: 62228
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European (Finnish)
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allele num: 6448
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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Other
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South Asian
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allele frequency: 6.45577792123951e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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African
type: Population
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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SIO_000300: -7.976e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.716e1

MQ
type: SiteQuality
SIO_000300: 5.177e1

QD
type: SiteQuality
SIO_000300: 9.4e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62504
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

South Asian
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allele frequency: 6.45577792123951e-5
allele num: 15490
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15498
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9076
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European (Non-Finnish)
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allele frequency: 1.599232368463138e-5
allele num: 62530
num of homozygotes: 0

QD
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MQ
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BaseQRankSum
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FS
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62614
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

East Asian
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allele frequency: 3.695491500369549e-4
allele num: 8118
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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DP
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VQSLOD
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9102
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.59347313404296e-5
allele num: 62756
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
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Other
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allele frequency: 0.0e0
allele num: 850
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.342208e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.593981127263453e-5
allele num: 62736
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.354843e6

ClippingRankSum
type: SiteQuality
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FS
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MQ
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MQRankSum
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QD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583380834758376e-5
allele num: 63156
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15606
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.382397e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele frequency: 4.609144542772861e-4
allele num: 10848
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8228
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.888177200012621e-5
allele num: 63386
num of homozygotes: 0

South Asian
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allele num: 15618
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.087192868014786e-4
allele num: 9198
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 860
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MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 1.847e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.394337e6

InbreedingCoeff
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SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.065e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.14911037631869e-5
allele num: 63510
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South Asian
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allele frequency: 7.671653241273494e-4
allele num: 15642
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African
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allele count: 1
allele frequency: 1.085069444444444e-4
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East Asian
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allele count: 2
allele frequency: 2.42600679281902e-4
allele num: 8244
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 862
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.41e-1

MQ
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ClippingRankSum
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 9.196247930844215e-5
allele num: 10874
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63594
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
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African
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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ClippingRankSum
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DP
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MQ
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.557729453548508e-5
allele num: 64196
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East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11012
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South Asian
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allele count: 0
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QD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

African
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allele num: 9318
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.212337702677517e-5
allele num: 64388
num of homozygotes: 0

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

Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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Other
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Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 6.144582014808442e-5
allele num: 65098
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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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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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Other
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South Asian
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allele frequency: 2.49500998003992e-4
allele num: 16032
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65124
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6582
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VQSLOD
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BaseQRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65124
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

East Asian
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allele frequency: 5.886508123381211e-4
allele num: 8494
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

East Asian
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allele frequency: 3.169014084507042e-3
allele num: 8520
num of homozygotes: 0

MQ
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.503849e6

FS
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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Other
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allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9554
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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South Asian
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allele frequency: 6.202704379109291e-5
allele num: 16122
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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DP
type: SiteQuality
SIO_000300: 1.512663e6

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
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allele count: 1
allele frequency: 1.041449697979588e-4
allele num: 9602
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.520584e6

QD
type: SiteQuality
SIO_000300: 2.913e1

GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.558854815670304e-5
allele num: 65806
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11376
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.040799333888426e-4
allele num: 9608
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.521794e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.078473087560405e-5
allele num: 65806
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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variant carriers: 1

South Asian
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allele frequency: 6.770064007877893e-4
allele num: 16248
num of homozygotes: 0

African
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allele frequency: 1.2453300124533e-3
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

Latino
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allele count: 112
allele frequency: 9.807355516637478e-3
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Other
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allele count: 7
allele frequency: 7.900677200902935e-3
allele num: 886
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European (Non-Finnish)
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allele count: 292
allele frequency: 4.429611650485437e-3
allele num: 65920
num of homozygotes: 4

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.386300093196645e-2
allele num: 8584
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65966
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.023705853894533e-5
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Latino
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African
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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QD
type: SiteQuality
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MQ
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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East Asian
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South Asian
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allele frequency: 5.48579787882482e-4
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

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

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.510893542441e-5
allele num: 66186
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Other
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African
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allele count: 0
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Latino
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allele frequency: 1.304347826086957e-3
allele num: 11500
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East Asian
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.538055e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 1582
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.674e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 1.541485e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 5.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

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