14-105413868-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413868
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413868
    reference: chr 14
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
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.8048T>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.7920T>A
  hgvsp: ENST00000333244.5:c.7920T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6350T>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45934
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50592
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly2640Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105413869-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
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.7919G>T
  hgvsp: ENSP00000353114.4:p.Gly2640Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6349G>T
  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.8047G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45926
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly2640Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

14-105413869-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
allele count: 144
allele frequency: 1.192803419369802e-3
allele num: 120724
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.8047G>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.7919G>C
  hgvsp: ENSP00000353114.4:p.Gly2640Ala
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6349G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45926
  bin: 9.75e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50603
  bin: 9.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly2640Ala
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

14-105413869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413869
    reference: chr 14
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
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.8047G>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.7919G>A
  hgvsp: ENSP00000353114.4:p.Gly2640Asp
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6349G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45926
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50603
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly2640Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-105413876-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413876
    reference: chr 14
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
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.8040G>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.7912G>C
  hgvsp: ENSP00000353114.4:p.Asp2638His
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6342G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45926
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50593
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp2638His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-105413876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413876
    reference: chr 14
allele count: 105
allele frequency: 8.696948613457907e-4
allele num: 120732
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.7912G>A
  hgvsp: ENSP00000353114.4:p.Asp2638Asn
  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.8040G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6342G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45926
  bin: 9.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50593
  bin: 9.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp2638Asn
num of homozygotes: 6
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

14-105413877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413877
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413877
    reference: chr 14
allele count: 4
allele frequency: 3.313123281317298e-5
allele num: 120732
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.8039C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6341C>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.7911C>T
  hgvsp: ENST00000333244.5:c.7911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45912
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50578
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala2637Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-105413879-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413879
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413879
    reference: chr 14
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
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.7909G>T
  hgvsp: ENSP00000353114.4:p.Ala2637Ser
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6339G>T
  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.8037G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2637Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

14-105413880-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413880
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413880
    reference: chr 14
allele count: 17
allele frequency: 1.408077394559852e-4
allele num: 120732
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.8036G>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.7908G>C
  hgvsp: ENST00000333244.5:c.7908G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6338G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45918
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 16
hgvs: p.Leu2636Leu
num of homozygotes: 1
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-105413882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413882
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413882
    reference: chr 14
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
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.7906C>G
  hgvsp: ENSP00000353114.4:p.Leu2636Val
  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.8034C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6336C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu2636Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

14-105413884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413884
    reference: chr 14
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
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.7904C>T
  hgvsp: ENSP00000353114.4:p.Ser2635Phe
  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.8032C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6334C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser2635Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-105413885-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413885
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413885
    reference: chr 14
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6333T>A
  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.8031T>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.7903T>A
  hgvsp: ENSP00000353114.4:p.Ser2635Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser2635Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-105413886-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413886
    reference: chr 14
allele count: 2
allele frequency: 1.656589083077942e-5
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6332G>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.7902G>T
  hgvsp: ENST00000333244.5:c.7902G>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.8030G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50579
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2634Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-105413893-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413893
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413893
    reference: chr 14
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6325G>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.7895G>C
  hgvsp: ENSP00000353114.4:p.Gly2632Ala
  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.8023G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly2632Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

14-105413895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413895
    reference: chr 14
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
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.7893G>C
  hgvsp: ENSP00000353114.4:p.Glu2631Asp
  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.8021G>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6323G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2631Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

14-105413895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413895
    reference: chr 14
allele count: 6
allele frequency: 4.970014247374176e-5
allele num: 120724
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.7893G>A
  hgvsp: ENST00000333244.5:c.7893G>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.8021G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6323G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu2631Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-105413898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413898
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413898
    reference: chr 14
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
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.7890G>A
  hgvsp: ENST00000333244.5:c.7890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6320G>A
  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.8018G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu2630Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-105413902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413902
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413902
    reference: chr 14
allele count: 7
allele frequency: 5.798542080848244e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6316G>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.7886G>A
  hgvsp: ENSP00000353114.4:p.Arg2629Gln
  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.8014G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45918
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50580
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2629Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-105413903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413903
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413903
    reference: chr 14
allele count: 6
allele frequency: 4.970178926441352e-5
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6315C>T
  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.8013C>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.7885C>T
  hgvsp: ENSP00000353114.4:p.Arg2629Trp
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45918
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2629Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-105413904-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413904
    reference: chr 14
allele count: 9
allele frequency: 7.455144878315468e-5
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6314G>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.7884G>C
  hgvsp: ENST00000333244.5:c.7884G>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.8012G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2628Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

14-105413904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413904
    reference: chr 14
allele count: 3
allele frequency: 2.485048292771823e-5
allele num: 120722
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.7884G>A
  hgvsp: ENST00000333244.5:c.7884G>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.8012G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6314G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2628Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

14-105413905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413905
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413905
    reference: chr 14
allele count: 3
allele frequency: 2.485130635033715e-5
allele num: 120718
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.7883C>T
  hgvsp: ENSP00000353114.4:p.Ala2628Val
  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.8011C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6313C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2628Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-105413906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413906
    reference: chr 14
allele count: 2
allele frequency: 1.656753756689143e-5
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6312G>A
  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.8010G>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.7882G>A
  hgvsp: ENSP00000353114.4:p.Ala2628Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2628Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-105413908-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413908
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413908
    reference: chr 14
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
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.8008G>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6310G>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.7880G>T
  hgvsp: ENSP00000353114.4:p.Gly2627Val
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly2627Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-105413911-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413911
    reference: chr 14
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
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.8005A>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6307A>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.7877A>C
  hgvsp: ENSP00000353114.4:p.Asp2626Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp2626Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

14-105413916-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413916
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413916
    reference: chr 14
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
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.7872G>C
  hgvsp: ENSP00000353114.4:p.Lys2624Asn
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6302G>C
  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.8000G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys2624Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-105413919-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413919
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413919
    reference: chr 14
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
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.7997A>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.7869A>C
  hgvsp: ENST00000333244.5:c.7869A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6299A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala2623Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105413921-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413921
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413921
    reference: chr 14
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
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.7995G>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6297G>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.7867G>T
  hgvsp: ENSP00000353114.4:p.Ala2623Ser
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2623Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

14-105413921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413921
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413921
    reference: chr 14
allele count: 178
allele frequency: 1.474608565984591e-3
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6297G>A
  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.7995G>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.7867G>A
  hgvsp: ENSP00000353114.4:p.Ala2623Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45922
  bin: 9.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2623Thr
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-105413922-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413922
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413922
    reference: chr 14
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
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.7994A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6296A>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.7866A>G
  hgvsp: ENST00000333244.5:c.7866A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2622Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

14-105413924-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413924
    reference: chr 14
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
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.7992A>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.7864A>G
  hgvsp: ENSP00000353114.4:p.Arg2622Gly
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6294A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg2622Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

14-105413925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413925
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413925
    reference: chr 14
allele count: 8
allele frequency: 6.62745422914423e-5
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6293G>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.7863G>A
  hgvsp: ENST00000333244.5:c.7863G>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.7991G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2621Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-105413926-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413926
    reference: chr 14
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6292C>G
  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.7990C>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.7862C>G
  hgvsp: ENSP00000353114.4:p.Pro2621Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2621Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

14-105413930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413930
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413930
    reference: chr 14
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
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.7986G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6288G>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.7858G>A
  hgvsp: ENSP00000353114.4:p.Ala2620Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2620Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-105413933-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413933
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413933
    reference: chr 14
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
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.7855C>G
  hgvsp: ENSP00000353114.4:p.Gln2619Glu
  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.7983C>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6285C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln2619Glu
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: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

14-105413936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413936
    reference: chr 14
allele count: 14
allele frequency: 1.159862142099682e-4
allele num: 120704
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.7852G>A
  hgvsp: ENSP00000353114.4:p.Val2618Ile
  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.7980G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6282G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45918
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50577
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2618Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

14-105413937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413937
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413937
    reference: chr 14
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
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.7851C>T
  hgvsp: ENST00000333244.5:c.7851C>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.7979C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6281C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50577
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp2617Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-105413945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413945
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413945
    reference: chr 14
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
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.7843G>A
  hgvsp: ENSP00000353114.4:p.Glu2615Lys
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6273G>A
  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.7971G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu2615Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-105413948-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413948
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413948
    reference: chr 14
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
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.7840A>T
  hgvsp: ENSP00000353114.4:p.Met2614Leu
  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.7968A>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6270A>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met2614Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-105413948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413948
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413948
    reference: chr 14
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
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.7968A>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.7840A>G
  hgvsp: ENSP00000353114.4:p.Met2614Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6270A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50576
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met2614Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

14-105413949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413949
    reference: chr 14
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6269C>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.7839C>T
  hgvsp: ENST00000333244.5:c.7839C>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.7967C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50577
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser2613Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

14-105413950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413950
    reference: chr 14
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
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.7966G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6268G>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.7838G>A
  hgvsp: ENSP00000353114.4:p.Ser2613Asn
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50577
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2613Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

14-105413952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413952
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413952
    reference: chr 14
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
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.7964C>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.7836C>T
  hgvsp: ENST00000333244.5:c.7836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6266C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2612Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105413954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413954
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413954
    reference: chr 14
allele count: 8
allele frequency: 6.628222973420826e-5
allele num: 120696
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.7834T>C
  hgvsp: ENSP00000353114.4:p.Ser2612Pro
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6264T>C
  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.7962T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45919
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50576
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2612Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105413963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413963
    reference: chr 14
allele count: 17
allele frequency: 1.408590746387379e-4
allele num: 120688
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.7825A>G
  hgvsp: ENSP00000353114.4:p.Met2609Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6255A>G
  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.7953A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45919
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50574
  bin: 9.75e1
  variant carriers: 17
hgvs: p.Met2609Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-105413965-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413965
    reference: chr 14
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
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.7823A>T
  hgvsp: ENSP00000353114.4:p.Glu2608Val
  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.7951A>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6253A>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45919
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50577
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu2608Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

14-105413966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413966
    reference: chr 14
allele count: 29
allele frequency: 2.404723208066602e-4
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6252G>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.7822G>A
  hgvsp: ENSP00000353114.4:p.Glu2608Lys
  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.7950G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45928
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50503
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu2608Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

14-105413967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413967
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413967
    reference: chr 14
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
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.7949G>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.7821G>C
  hgvsp: ENST00000333244.5:c.7821G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6251G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val2607Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-105413968-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413968
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413968
    reference: chr 14
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
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.7948T>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6250T>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.7820T>G
  hgvsp: ENSP00000353114.4:p.Val2607Gly
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val2607Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

14-105413970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413970
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413970
    reference: chr 14
allele count: 17
allele frequency: 1.408824211887161e-4
allele num: 120668
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.7946T>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.7818T>C
  hgvsp: ENST00000333244.5:c.7818T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6248T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50574
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2606Asp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-105413972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413972
    reference: chr 14
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6246G>A
  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.7944G>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.7816G>A
  hgvsp: ENSP00000353114.4:p.Asp2606Asn
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp2606Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105413972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413972
    reference: chr 14
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
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.7944G>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6246G>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.7816G>T
  hgvsp: ENSP00000353114.4:p.Asp2606Tyr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp2606Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

14-105413973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413973
    reference: chr 14
allele count: 5
allele frequency: 4.143531946631308e-5
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6245C>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.7815C>T
  hgvsp: ENST00000333244.5:c.7815C>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.7943C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45900
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 683
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 614
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro2605Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-105413973-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413973
    reference: chr 14
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6245C>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.7815C>G
  hgvsp: ENST00000333244.5:c.7815C>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.7943C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45900
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50581
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2605Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-105413979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413979
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413979
    reference: chr 14
allele count: 15
allele frequency: 1.243245035308159e-4
allele num: 120652
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.7937A>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.7809A>G
  hgvsp: ENST00000333244.5:c.7809A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6239A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2603Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-105413979-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413979
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413979
    reference: chr 14
allele count: 4
allele frequency: 3.315320094155091e-5
allele num: 120652
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.7809A>C
  hgvsp: ENST00000333244.5:c.7809A>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.7937A>C
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6239A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr2603Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

14-105413980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413980
    reference: chr 14
allele count: 4
allele frequency: 3.315210184325686e-5
allele num: 120656
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.7808C>T
  hgvsp: ENSP00000353114.4:p.Thr2603Ile
  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.7936C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6238C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Thr2603Ile
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-105413980-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413980
    reference: chr 14
allele count: 5
allele frequency: 4.144012730407108e-5
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6238C>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.7808C>G
  hgvsp: ENSP00000353114.4:p.Thr2603Arg
  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.7936C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2603Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-105413982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413982
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413982
    reference: chr 14
allele count: 3
allele frequency: 2.48681985476972e-5
allele num: 120636
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.7934G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6236G>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.7806G>A
  hgvsp: ENST00000333244.5:c.7806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val2602Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

14-105413985-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413985
    reference: chr 14
allele count: 103
allele frequency: 8.539922062847194e-4
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6233A>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.7803A>C
  hgvsp: ENSP00000353114.4:p.Glu2601Asp
  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.7931A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 45902
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50590
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu2601Asp
num of homozygotes: 3
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-105413988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413988
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413988
    reference: chr 14
allele count: 3
allele frequency: 2.48752093663455e-5
allele num: 120602
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.7800G>A
  hgvsp: ENST00000333244.5:c.7800G>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.7928G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6230G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45901
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50582
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2600Ala
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: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

14-105413989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413989
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413989
    reference: chr 14
allele count: 14
allele frequency: 1.161093418259023e-4
allele num: 120576
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.7799C>T
  hgvsp: ENSP00000353114.4:p.Ala2600Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6229C>T
  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.7927C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45906
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50585
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2600Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

14-105413990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413990
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413990
    reference: chr 14
allele count: 104
allele frequency: 8.624836211043107e-4
allele num: 120582
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.7798G>A
  hgvsp: ENSP00000353114.4:p.Ala2600Thr
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6228G>A
  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.7926G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45907
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50596
  bin: 9.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2600Thr
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

14-105413992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413992
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413992
    reference: chr 14
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
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.7924A>G
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6226A>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.7796A>G
  hgvsp: ENSP00000353114.4:p.Lys2599Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50571
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys2599Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105413998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105413998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105413998
    reference: chr 14
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
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.7790G>A
  hgvsp: ENSP00000353114.4:p.Gly2597Asp
  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.7918G>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6220G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2597Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-105414001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414001
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414001
    reference: chr 14
allele count: 2
allele frequency: 1.659062629614268e-5
allele num: 120550
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.7915A>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.7787A>G
  hgvsp: ENSP00000353114.4:p.Lys2596Arg
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6217A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys2596Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

14-105414003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414003
    reference: chr 14
allele count: 5
allele frequency: 4.148000663680106e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6215G>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.7785G>A
  hgvsp: ENST00000333244.5:c.7785G>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.7913G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Leu2595Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-105414004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414004
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414004
    reference: chr 14
allele count: 4
allele frequency: 3.318455590768056e-5
allele num: 120538
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.7912T>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.7784T>C
  hgvsp: ENSP00000353114.4:p.Leu2595Pro
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6214T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2595Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-105414011-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414011
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414011
    reference: chr 14
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
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.7777C>G
  hgvsp: ENSP00000353114.4:p.Leu2593Val
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6207C>G
  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.7905C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2593Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-105414014-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414013
    reference: chr 14
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
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.7773delC
  hgvsp: ENSP00000353114.4:p.Lys2592SerfsTer4
  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.7901delC
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6203delC
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys2592SerfsTer4
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: TG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

14-105414015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414015
    reference: chr 14
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
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.7901C>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.7773C>G
  hgvsp: ENST00000333244.5:c.7773C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6203C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45892
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro2591Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105414024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414024
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414024
    reference: chr 14
allele count: 3
allele frequency: 2.490081176646359e-5
allele num: 120478
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.7892C>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.7764C>T
  hgvsp: ENST00000333244.5:c.7764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6194C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50571
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2588Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-105414027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414027
    reference: chr 14
allele count: 2
allele frequency: 1.660164356271271e-5
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6191T>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.7761T>C
  hgvsp: ENST00000333244.5:c.7761T>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.7889T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp2587Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105414032-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414032
    reference: chr 14
allele count: 155
allele frequency: 1.287097470645874e-3
allele num: 120426
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.7756C>A
  hgvsp: ENSP00000353114.4:p.Leu2586Ile
  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.7884C>A
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6186C>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45896
  bin: 9.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu2586Ile
num of homozygotes: 3
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

14-105414034-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414035
    reference: chr 14
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.7753dupC
  hgvsp: ENSP00000353114.4:p.Gln2585ProfsTer62
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6183dupC
  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.7881dupC
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln2585ProfsTer62
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-105414035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105414035
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105414035
    reference: chr 14
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.7753C>T
  hgvsp: ENSP00000353114.4:p.Gln2585Ter
  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.7881C>T
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+6183C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln2585Ter
num of homozygotes: 0
population: Latino
reference allele: G

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042900919305414e-4
allele num: 9790
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.153e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e1

VQSLOD
type: SiteQuality
SIO_000300: -1.311e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 1.5994e1

DP
type: SiteQuality
SIO_000300: 1.0061282e7

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.99e-1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

QD
type: SiteQuality
SIO_000300: 1.144e1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.0060419e7

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

FS
type: SiteQuality
SIO_000300: 1.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.127e1

GenotypeQuality
all individuals: 695
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 136
allele frequency: 1.3883217639853e-2
allele num: 9796
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.1e1

QD
type: SiteQuality
SIO_000300: 1.144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

FS
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 1.0060419e7

MQRankSum
type: SiteQuality
SIO_000300: -1.127e1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e1

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

FS
type: SiteQuality
SIO_000300: 1.394e1

DP
type: SiteQuality
SIO_000300: 1.0060419e7

VQSLOD
type: SiteQuality
SIO_000300: -1.458e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.127e1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.1e1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.593e1

DP
type: SiteQuality
SIO_000300: 1.0056522e7

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 97
allele frequency: 9.899979587670953e-3
allele num: 9798
num of homozygotes: 6

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0056522e7

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.593e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.65e-2

QD
type: SiteQuality
SIO_000300: 1.444e1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.0049244e7

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -9.068000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.583e1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 3.298e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.769e0

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.0049177e7

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.563e1

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 17
allele frequency: 1.029554263565892e-3
allele num: 16512
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.468e1

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: -9.078000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

DP
type: SiteQuality
SIO_000300: 1.0049852e7

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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South Asian
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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Latino
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South Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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QD
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MQRankSum
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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Latino
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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MQRankSum
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FS
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VQSLOD
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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MQ
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 6

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

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

South Asian
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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MQ
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Latino
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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allele frequency: 2.064965197215777e-2
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European (Non-Finnish)
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

African
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Latino
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Other
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African
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allele frequency: 6.132461161079313e-4
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European (Non-Finnish)
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allele frequency: 1.499430216517723e-5
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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Latino
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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QD
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 1.6936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.0042316e7

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.581e0

MQ
type: SiteQuality
SIO_000300: 5.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.573e1

DP
type: SiteQuality
SIO_000300: 1.0041773e7

ClippingRankSum
type: SiteQuality
SIO_000300: -1.471e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0041773e7

FS
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

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: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.0041739e7

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.055e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.0041739e7

MQRankSum
type: SiteQuality
SIO_000300: -4.199e0

MQ
type: SiteQuality
SIO_000300: 5.425e1

VQSLOD
type: SiteQuality
SIO_000300: -3.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 13
allele frequency: 1.331148883882859e-3
allele num: 9766
num of homozygotes: 0

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

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

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

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

Other
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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
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

DP
type: SiteQuality
SIO_000300: 1.0040849e7

FS
type: SiteQuality
SIO_000300: 1.0078e1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

MQRankSum
type: SiteQuality
SIO_000300: -5.579e0

QD
type: SiteQuality
SIO_000300: 8.32e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.000240009600384e-5
allele num: 66664
num of homozygotes: 0

Latino
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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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East Asian
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allele frequency: 0.0e0
allele num: 8622
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South Asian
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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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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0040849e7

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

FS
type: SiteQuality
SIO_000300: 1.0078e1

MQ
type: SiteQuality
SIO_000300: 5.287e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 4
allele frequency: 4.095004095004095e-4
allele num: 9768
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.499e1

VQSLOD
type: SiteQuality
SIO_000300: -1.824e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.0040792e7

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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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
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.069e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
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allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
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Latino
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0040055e7

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
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allele count: 95
allele frequency: 9.73360655737705e-3
allele num: 9760
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.046993780234969e-4
allele num: 11576
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

East Asian
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Other
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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South Asian
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Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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African
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South Asian
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allele frequency: 1.211387038158692e-4
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East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.501366243281386e-4
allele num: 66606
num of homozygotes: 0

Other
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.163e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0039355e7

VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 6.91085003455425e-4
allele num: 11576
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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele num: 16512
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Other
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0039003e7

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: 66610
num of homozygotes: 0

African
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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: 6614
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.643e1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

DP
type: SiteQuality
SIO_000300: 1.0034408e7

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: -5.621e0

FS
type: SiteQuality
SIO_000300: 5.872e0

MQ
type: SiteQuality
SIO_000300: 5.436e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.494e0

DP
type: SiteQuality
SIO_000300: 1.0033257e7

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

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

African
type: Population
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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

DP
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FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.409e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.514e0

QD
type: SiteQuality
SIO_000300: 1.533e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.622e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
all individuals: 659
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007629689705926e-5
allele num: 66582
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.278e0

VQSLOD
type: SiteQuality
SIO_000300: -1.166e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 7.97e0

FS
type: SiteQuality
SIO_000300: 1.886e0

DP
type: SiteQuality
SIO_000300: 1.003278e7

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

East Asian
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allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.621e1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.0032758e7

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

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

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

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

Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

DP
type: SiteQuality
SIO_000300: 1.0032222e7

VQSLOD
type: SiteQuality
SIO_000300: -5.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 5.549e0

MQ
type: SiteQuality
SIO_000300: 5.508e1

MQRankSum
type: SiteQuality
SIO_000300: -6.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

QD
type: SiteQuality
SIO_000300: 7.4e0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.708e1

DP
type: SiteQuality
SIO_000300: 1.0031843e7

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

FS
type: SiteQuality
SIO_000300: 9.016999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 5772
bin: 6.25e1
variant carriers: 0

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

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

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

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

Latino
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.578e0

FS
type: SiteQuality
SIO_000300: 6.763e0

DP
type: SiteQuality
SIO_000300: 1.0031728e7

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Latino
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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
allele num: 8622
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
num of homozygotes: 0

DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

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

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3506e1

MQRankSum
type: SiteQuality
SIO_000300: -6.083e0

MQ
type: SiteQuality
SIO_000300: 5.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

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

African
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allele count: 2
allele frequency: 2.056766762649116e-4
allele num: 9724
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
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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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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 135

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

European (Non-Finnish)
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allele count: 120
allele frequency: 1.803751803751804e-3
allele num: 66528
num of homozygotes: 3

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

African
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allele count: 29
allele frequency: 2.995867768595041e-3
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num of homozygotes: 0

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

QD
type: SiteQuality
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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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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.388e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

DP
type: SiteQuality
SIO_000300: 1.0032066e7

ReadPosRankSum
type: SiteQuality
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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: 66526
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

Other
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.0028342e7

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0