14-105415768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415768
    reference: chr 14
allele count: 4
allele frequency: 3.359594161025348e-5
allele num: 119062
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.6020T>C
  hgvsp: ENSP00000353114.4:p.Ile2007Thr
  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+4450T>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.6148T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55823
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile2007Thr
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-105415772-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415772
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415772
    reference: chr 14
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
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.6016T>A
  hgvsp: ENSP00000353114.4:p.Ser2006Thr
  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.6144T>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+4446T>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2006Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

14-105415774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415774
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415774
    reference: chr 14
allele count: 327
allele frequency: 2.746606638892622e-3
allele num: 119056
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+4444G>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.6014G>A
  hgvsp: ENSP00000353114.4:p.Arg2005Lys
  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.6142G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47463
  bin: 9.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 283
hgvs: p.Arg2005Lys
num of homozygotes: 37
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105415776-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415776
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415776
    reference: chr 14
allele count: 52
allele frequency: 4.367399045891285e-4
allele num: 119064
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.6012G>C
  hgvsp: ENST00000333244.5:c.6012G>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.6140G>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+4442G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47448
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55821
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Gly2004Gly
num of homozygotes: 5
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

14-105415777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415777
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415777
    reference: chr 14
allele count: 10
allele frequency: 8.39785686692756e-5
allele num: 119078
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.6139G>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+4441G>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.6011G>A
  hgvsp: ENSP00000353114.4:p.Gly2004Glu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47448
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2004Glu
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-105415785-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
allele count: 52
allele frequency: 4.367912641747165e-4
allele num: 119050
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+4433G>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.6003G>T
  hgvsp: ENST00000333244.5:c.6003G>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.6131G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47451
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2001Ser
num of homozygotes: 8
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

14-105415785-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
allele count: 2
allele frequency: 1.679966400671986e-5
allele num: 119050
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+4433G>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.6003G>C
  hgvsp: ENST00000333244.5:c.6003G>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.6131G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47451
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2001Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

14-105415785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415785
    reference: chr 14
allele count: 1
allele frequency: 8.399832003359932e-6
allele num: 119050
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+4433G>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.6131G>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.6003G>A
  hgvsp: ENST00000333244.5:c.6003G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2001Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

14-105415786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415786
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415786
    reference: chr 14
allele count: 5
allele frequency: 4.198505332101772e-5
allele num: 119090
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.6130C>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.6002C>T
  hgvsp: ENSP00000353114.4:p.Ser2001Leu
  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+4432C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47452
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser2001Leu
num of homozygotes: 1
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105415788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415788
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415788
    reference: chr 14
allele count: 184
allele frequency: 1.545491197419702e-3
allele num: 119056
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.6000A>G
  hgvsp: ENST00000333244.5:c.6000A>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.6128A>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+4430A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47454
  bin: 9.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55817
  bin: 9.75e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val2000Val
num of homozygotes: 15
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-105415789-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415789
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415789
    reference: chr 14
allele count: 2
allele frequency: 1.67937392939912e-5
allele num: 119092
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.5999T>C
  hgvsp: ENSP00000353114.4:p.Val2000Ala
  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.6127T>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+4429T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 55824
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val2000Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/14-105415791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415791
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415791
    reference: chr 14
allele count: 2
allele frequency: 1.679261125104954e-5
allele num: 119100
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.5997G>T
  hgvsp: ENST00000333244.5:c.5997G>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+4427G>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.6125G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47446
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55824
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1999Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-105415792-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415792
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415792
    reference: chr 14
allele count: 1
allele frequency: 8.396446623788812e-6
allele num: 119098
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.6124G>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+4426G>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.5996G>C
  hgvsp: ENSP00000353114.4:p.Gly1999Ala
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1999Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

14-105415793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415793
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415793
    reference: chr 14
allele count: 20
allele frequency: 1.679317525357695e-4
allele num: 119096
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.5995G>A
  hgvsp: ENSP00000353114.4:p.Gly1999Arg
  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+4425G>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.6123G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47444
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1999Arg
num of homozygotes: 2
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-105415794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415794
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415794
    reference: chr 14
allele count: 105
allele frequency: 8.817749710273938e-4
allele num: 119078
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.6122C>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.5994C>T
  hgvsp: ENST00000333244.5:c.5994C>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+4424C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47446
  bin: 9.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55816
  bin: 9.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1998Phe
num of homozygotes: 8
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

14-105415795-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415795
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415795
    reference: chr 14
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
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.5993T>A
  hgvsp: ENSP00000353114.4:p.Phe1998Tyr
  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.6121T>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+4423T>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe1998Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

14-105415797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415797
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415797
    reference: chr 14
allele count: 21
allele frequency: 1.763194572719182e-4
allele num: 119102
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.6119G>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+4421G>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.5991G>A
  hgvsp: ENST00000333244.5:c.5991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1997Ser
num of homozygotes: 1
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

14-105415800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415800
    reference: chr 14
allele count: 22
allele frequency: 1.847063169560399e-4
allele num: 119108
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+4418G>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.5988G>A
  hgvsp: ENST00000333244.5:c.5988G>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.6116G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47438
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55819
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1996Pro
num of homozygotes: 3
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105415801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415801
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415801
    reference: chr 14
allele count: 5
allele frequency: 4.197588904933006e-5
allele num: 119116
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+4417C>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.6115C>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.5987C>T
  hgvsp: ENSP00000353114.4:p.Pro1996Leu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55817
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1996Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-105415801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415801
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415801
    reference: chr 14
allele count: 3
allele frequency: 2.518553342959804e-5
allele num: 119116
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+4417C>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.6115C>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.5987C>G
  hgvsp: ENSP00000353114.4:p.Pro1996Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55817
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1996Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-105415803-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415803
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415803
    reference: chr 14
allele count: 1
allele frequency: 8.394614015647561e-6
allele num: 119124
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.5985G>T
  hgvsp: ENSP00000353114.4:p.Met1995Ile
  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+4415G>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.6113G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1995Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-105415803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415803
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415803
    reference: chr 14
allele count: 2
allele frequency: 1.678922803129512e-5
allele num: 119124
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.5985G>A
  hgvsp: ENSP00000353114.4:p.Met1995Ile
  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.6113G>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+4415G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1995Ile
num of homozygotes: 1
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

14-105415812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415812
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415812
    reference: chr 14
allele count: 992
allele frequency: 8.342443865108065e-3
allele num: 118910
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.6104A>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+4406A>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.5976A>G
  hgvsp: ENST00000333244.5:c.5976A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47480
  bin: 9.75e1
  variant carriers: 833
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55725
  bin: 9.75e1
  variant carriers: 883
hgvs: p.Lys1992Lys
num of homozygotes: 92
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-105415815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415815
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415815
    reference: chr 14
allele count: 1
allele frequency: 8.39348665435622e-6
allele num: 119140
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.5973C>A
  hgvsp: ENST00000333244.5:c.5973C>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+4403C>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.6101C>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55779
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1991Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-105415816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415816
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415816
    reference: chr 14
allele count: 4
allele frequency: 3.35750738651625e-5
allele num: 119136
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+4402C>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.6100C>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.5972C>T
  hgvsp: ENSP00000353114.4:p.Pro1991Leu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55779
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1991Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-105415823-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415823
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415823
    reference: chr 14
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
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.6093A>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+4395A>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.5965A>C
  hgvsp: ENSP00000353114.4:p.Lys1989Gln
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys1989Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

14-105415824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415824
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415824
    reference: chr 14
allele count: 2
allele frequency: 1.678640972268851e-5
allele num: 119144
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.6092C>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+4394C>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.5964C>G
  hgvsp: ENSP00000353114.4:p.Phe1988Leu
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55780
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe1988Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

14-105415827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415827
    reference: chr 14
allele count: 3
allele frequency: 2.518003726645515e-5
allele num: 119142
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+4391G>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.5961G>C
  hgvsp: ENSP00000353114.4:p.Lys1987Asn
  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.6089G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55780
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1987Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

14-105415827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415827
    reference: chr 14
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
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+4391G>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.6089G>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.5961G>A
  hgvsp: ENST00000333244.5:c.5961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1987Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

14-105415828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415828
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415828
    reference: chr 14
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
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+4390A>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.6088A>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.5960A>G
  hgvsp: ENSP00000353114.4:p.Lys1987Arg
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1987Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-105415831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415831
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415831
    reference: chr 14
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
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+4387G>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.5957G>A
  hgvsp: ENSP00000353114.4:p.Ser1986Asn
  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.6085G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1986Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-105415841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415841
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415841
    reference: chr 14
allele count: 7
allele frequency: 5.875835208004566e-5
allele num: 119132
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.6075G>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+4377G>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.5947G>A
  hgvsp: ENSP00000353114.4:p.Ala1983Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47350
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55775
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1983Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105415842-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415842
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415842
    reference: chr 14
allele count: 3
allele frequency: 2.518215089144814e-5
allele num: 119132
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.6074T>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.5946T>A
  hgvsp: ENST00000333244.5:c.5946T>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+4376T>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47350
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55779
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1982Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-105415847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
allele count: 5
allele frequency: 4.202952153592684e-5
allele num: 118964
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.5941A>T
  hgvsp: ENSP00000353114.4:p.Met1981Leu
  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+4371A>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.6069A>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47369
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1981Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

14-105415847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
allele count: 542
allele frequency: 4.556000134494469e-3
allele num: 118964
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+4371A>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.5941A>G
  hgvsp: ENSP00000353114.4:p.Met1981Val
  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.6069A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47369
  bin: 9.75e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 3
hgvs: p.Met1981Val
num of homozygotes: 44
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

14-105415847-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415847
    reference: chr 14
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
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.5941A>C
  hgvsp: ENSP00000353114.4:p.Met1981Leu
  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.6069A>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+4371A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1981Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

14-105415848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415848
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415848
    reference: chr 14
allele count: 107
allele frequency: 8.98661246703509e-4
allele num: 119066
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+4370C>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.6068C>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.5940C>T
  hgvsp: ENST00000333244.5:c.5940C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47325
  bin: 9.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55730
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1980Asp
num of homozygotes: 2
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

14-105415848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415848
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415848
    reference: chr 14
allele count: 6
allele frequency: 5.039221944131826e-5
allele num: 119066
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.5940C>G
  hgvsp: ENSP00000353114.4:p.Asp1980Glu
  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+4370C>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.6068C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47325
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55730
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asp1980Glu
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-105415849-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415849
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415849
    reference: chr 14
allele count: 4
allele frequency: 3.358240282092184e-5
allele num: 119110
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.6067A>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.5939A>C
  hgvsp: ENSP00000353114.4:p.Asp1980Ala
  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+4369A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1680
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1980Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-105415856-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415856
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415856
    reference: chr 14
allele count: 9
allele frequency: 7.556421278882321e-5
allele num: 119104
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.6060G>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.5932G>T
  hgvsp: ENSP00000353114.4:p.Asp1978Tyr
  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+4362G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47297
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55744
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp1978Tyr
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-105415856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415856
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415856
    reference: chr 14
allele count: 7
allele frequency: 5.877216550241806e-5
allele num: 119104
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.6060G>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.5932G>A
  hgvsp: ENSP00000353114.4:p.Asp1978Asn
  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+4362G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47297
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 55744
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 275
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genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 300
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1978Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

14-105415857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415857
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415857
    reference: chr 14
allele count: 149
allele frequency: 1.250923500570891e-3
allele num: 119112
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+4361C>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.5931C>T
  hgvsp: ENST00000333244.5:c.5931C>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.6059C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47312
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55748
  bin: 9.75e1
  variant carriers: 134
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1977Ala
num of homozygotes: 13
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-105415857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415857
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415857
    reference: chr 14
allele count: 1
allele frequency: 8.39545973537511e-6
allele num: 119112
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.6059C>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.5931C>G
  hgvsp: ENST00000333244.5:c.5931C>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+4361C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47312
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1977Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

14-105415860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415860
    reference: chr 14
allele count: 3
allele frequency: 2.518764797743187e-5
allele num: 119106
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.6056G>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+4358G>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.5928G>A
  hgvsp: ENST00000333244.5:c.5928G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55743
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1976Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-105415865-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415865
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415865
    reference: chr 14
allele count: 1
allele frequency: 8.396446623788812e-6
allele num: 119098
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+4353T>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.6051T>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.5923T>A
  hgvsp: ENSP00000353114.4:p.Ser1975Thr
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1975Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

14-105415868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415868
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415868
    reference: chr 14
allele count: 3
allele frequency: 2.519272434121026e-5
allele num: 119082
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.5920C>T
  hgvsp: ENST00000333244.5:c.5920C>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.6048C>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+4350C>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55737
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1974Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-105415868-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415868
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415868
    reference: chr 14
allele count: 1
allele frequency: 8.397574780403419e-6
allele num: 119082
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+4350C>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.6048C>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.5920C>A
  hgvsp: ENSP00000353114.4:p.Leu1974Met
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1974Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105415869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415869
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415869
    reference: chr 14
allele count: 13
allele frequency: 1.091593054109428e-4
allele num: 119092
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+4349C>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.6047C>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.5919C>T
  hgvsp: ENST00000333244.5:c.5919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55744
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1973Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

14-105415872-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415872
    reference: chr 14
allele count: 57
allele frequency: 4.787662948528424e-4
allele num: 119056
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.5916A>T
  hgvsp: ENST00000333244.5:c.5916A>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+4346A>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.6044A>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55724
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 2
hgvs: p.Gly1972Gly
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

14-105415872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415872
    reference: chr 14
allele count: 57
allele frequency: 4.787662948528424e-4
allele num: 119056
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.5916A>G
  hgvsp: ENST00000333244.5:c.5916A>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+4346A>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.6044A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47307
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55724
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1972Gly
num of homozygotes: 4
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-105415875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415875
    reference: chr 14
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
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.6041G>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+4343G>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.5913G>A
  hgvsp: ENST00000333244.5:c.5913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1971Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-105415875-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415875
    reference: chr 14
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185567
  ensembl transcript: ENST00000555122
  gene symbol: AHNAK2
  hgvsc: ENST00000555122.1:n.6041G>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.5913G>C
  hgvsp: ENSP00000353114.4:p.Glu1971Asp
  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+4343G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1971Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

14-105415877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415877
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415877
    reference: chr 14
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
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.5911G>C
  hgvsp: ENSP00000353114.4:p.Glu1971Gln
  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.6039G>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+4341G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55737
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1971Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-105415882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415882
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415882
    reference: chr 14
allele count: 35
allele frequency: 2.940237571195753e-4
allele num: 119038
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+4336G>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.6034G>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.5906G>A
  hgvsp: ENSP00000353114.4:p.Arg1969Gln
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47289
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55735
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1969Gln
num of homozygotes: 8
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-105415883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415883
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415883
    reference: chr 14
allele count: 9
allele frequency: 7.560610897360506e-5
allele num: 119038
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.6033C>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+4335C>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.5905C>T
  hgvsp: ENSP00000353114.4:p.Arg1969Trp
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47282
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1969Trp
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

14-105415884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415884
    reference: chr 14
allele count: 177
allele frequency: 1.486970109380513e-3
allele num: 119034
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.6032G>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+4334G>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.5904G>A
  hgvsp: ENST00000333244.5:c.5904G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47288
  bin: 9.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55735
  bin: 9.75e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1968Ala
num of homozygotes: 11
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

14-105415885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415885
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415885
    reference: chr 14
allele count: 8
allele frequency: 6.720881779689495e-5
allele num: 119032
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+4333C>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.6031C>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.5903C>T
  hgvsp: ENSP00000353114.4:p.Ala1968Val
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47262
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1968Val
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

14-105415885-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415885
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415885
    reference: chr 14
allele count: 9
allele frequency: 7.560992002150683e-5
allele num: 119032
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.5903C>G
  hgvsp: ENSP00000353114.4:p.Ala1968Gly
  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.6031C>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+4333C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47262
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Ala1968Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-105415888-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415888
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415888
    reference: chr 14
allele count: 6
allele frequency: 5.040491952014517e-5
allele num: 119036
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.5900G>C
  hgvsp: ENSP00000353114.4:p.Gly1967Ala
  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.6028G>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+4330G>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47261
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55731
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Gly1967Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-105415889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415889
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415889
    reference: chr 14
allele count: 115
allele frequency: 9.66126755830365e-4
allele num: 119032
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+4329G>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.5899G>A
  hgvsp: ENSP00000353114.4:p.Gly1967Ser
  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.6027G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47262
  bin: 9.75e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55733
  bin: 9.75e1
  variant carriers: 109
hgvs: p.Gly1967Ser
num of homozygotes: 6
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-105415890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415890
    reference: chr 14
allele count: 1
allele frequency: 8.401102224611869e-6
allele num: 119032
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.6026T>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.5898T>G
  hgvsp: ENSP00000353114.4:p.Asp1966Glu
  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+4328T>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1966Glu
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: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-105415890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415890
    reference: chr 14
allele count: 3
allele frequency: 2.520330667383561e-5
allele num: 119032
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.6026T>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.5898T>C
  hgvsp: ENST00000333244.5:c.5898T>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+4328T>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1966Asp
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

14-105415890-ATCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415794
    reference: chr 14
allele count: 2
allele frequency: 1.680220444922374e-5
allele num: 119032
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
  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
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsp: ENSP00000353114.4:p.Leu1935_Asp1966del
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1935_Asp1966del
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: ATCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGG
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

14-105415891-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415891
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415891
    reference: chr 14
allele count: 2
allele frequency: 1.680051073552636e-5
allele num: 119044
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.6025A>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.5897A>C
  hgvsp: ENSP00000353114.4:p.Asp1966Ala
  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+4327A>C
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55732
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1966Ala
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

14-105415899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415899
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415899
    reference: chr 14
allele count: 2179
allele frequency: 1.830692453749601e-2
allele num: 119026
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+4319T>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.6017T>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.5889T>C
  hgvsp: ENST00000333244.5:c.5889T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 47322
  bin: 9.75e1
  variant carriers: 1539
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55863
  bin: 9.75e1
  variant carriers: 1763
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1963Ala
num of homozygotes: 386
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

14-105415899-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415899
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415899
    reference: chr 14
allele count: 13
allele frequency: 1.092198343219129e-4
allele num: 119026
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.5889T>A
  hgvsp: ENST00000333244.5:c.5889T>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.6017T>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+4319T>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47322
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55863
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1963Ala
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-105415900-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415900
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415900
    reference: chr 14
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
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.6016C>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.5888C>G
  hgvsp: ENSP00000353114.4:p.Ala1963Gly
  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+4318C>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1963Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-105415901-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415901
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415901
    reference: chr 14
allele count: 1
allele frequency: 8.400819920024195e-6
allele num: 119036
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.5887G>T
  hgvsp: ENSP00000353114.4:p.Ala1963Ser
  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+4317G>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.6015G>T
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1963Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-105415901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415901
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415901
    reference: chr 14
allele count: 1
allele frequency: 8.400819920024195e-6
allele num: 119036
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.5887G>A
  hgvsp: ENSP00000353114.4:p.Ala1963Thr
  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+4317G>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.6015G>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1963Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

14-105415901-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415901
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415899
    reference: chr 14
allele count: 15
allele frequency: 1.260122988003629e-4
allele num: 119036
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+4315_-221+4316delAG
  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.6013_6014delAG
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.5885_5886delAG
  hgvsp: ENSP00000353114.4:p.Lys1962SerfsTer2
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55752
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1962SerfsTer2
num of homozygotes: 3
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CCT
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-105415904-T-TCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415906
    reference: chr 14
allele count: 2
allele frequency: 1.68010752688172e-5
allele num: 119040
alternate allele: TCC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.5883_5884insGG
  hgvsp: ENSP00000353114.4:p.Lys1962GlyfsTer21
  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.6011_6012insGG
  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+4313_-221+4314insGG
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1962GlyfsTer21
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-105415904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415904
    reference: chr 14
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
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.5884A>G
  hgvsp: ENSP00000353114.4:p.Lys1962Glu
  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.6012A>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+4314A>G
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1962Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-105415906-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415906
    reference: chr 14
allele count: 3
allele frequency: 2.520500067213335e-5
allele num: 119024
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.6010A>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+4312A>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.5882A>C
  hgvsp: ENSP00000353114.4:p.Gln1961Pro
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55749
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1961Pro
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

14-105415906-T-TCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415908
    reference: chr 14
allele count: 11
allele frequency: 9.241833579782228e-5
allele num: 119024
alternate allele: TCG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.5881_5882insCG
  hgvsp: ENSP00000353114.4:p.Gln1961ProfsTer22
  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+4311_-221+4312insCG
  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.6009_6010insCG
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47268
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55749
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1961ProfsTer22
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-105415906-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415907
    reference: chr 14
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000450998
  ensembl transcript: ENST00000557457
  gene symbol: AHNAK2
  hgvsc: ENST00000557457.1:c.-221+4311dupC
  variant of: http://identifiers.org/hgnc/20125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000185567
  ensembl protein: ENSP00000353114
  ensembl transcript: ENST00000333244
  gene symbol: AHNAK2
  hgvsc: ENST00000333244.5:c.5881dupC
  hgvsp: ENSP00000353114.4:p.Gln1961ProfsTer4
  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.6009dupC
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1961ProfsTer4
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-105415908-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105415908
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105415908
    reference: chr 14
allele count: 1
allele frequency: 8.402090440101497e-6
allele num: 119018
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.5880C>A
  hgvsp: ENST00000333244.5:c.5880C>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.6008C>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+4310C>A
  variant of: http://identifiers.org/hgnc/20125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1960Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G

GenotypeQuality
all individuals: 1614
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.792435920415845e-4
allele num: 11158
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.509e1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 9.838e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.098e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 7.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.582e1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-5
allele num: 65860
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.641e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e0

FS
type: SiteQuality
SIO_000300: 2.3885e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.703e1

DP
type: SiteQuality
SIO_000300: 9.838191e6

MQRankSum
type: SiteQuality
SIO_000300: -1.675e0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 15
allele frequency: 1.345291479820628e-3
allele num: 11150
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 78
allele frequency: 1.206309928858645e-2
allele num: 6466
num of homozygotes: 8

Other
type: Population
allele count: 6
allele frequency: 6.787330316742082e-3
allele num: 884
num of homozygotes: 1

South Asian
type: Population
allele count: 81
allele frequency: 4.94989000244439e-3
allele num: 16364
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 98
allele frequency: 1.487824133114714e-3
allele num: 65868
num of homozygotes: 12

African
type: Population
allele count: 38
allele frequency: 3.91026960279893e-3
allele num: 9718
num of homozygotes: 3

East Asian
type: Population
allele count: 11
allele frequency: 1.278178015338136e-3
allele num: 8606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.663e0

MQ
type: SiteQuality
SIO_000300: 5.351e1

MQRankSum
type: SiteQuality
SIO_000300: -5.524e0

QD
type: SiteQuality
SIO_000300: 1.437e1

DP
type: SiteQuality
SIO_000300: 9.847937e6

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.302e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.586157432311279e-4
allele num: 11154
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 2.777777777777778e-3
allele num: 9720
num of homozygotes: 2

East Asian
type: Population
allele count: 5
allele frequency: 5.811250581125058e-4
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.499205670292069e-4
allele num: 16366
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.062666990527083e-4
allele num: 65872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 9.844556e6

VQSLOD
type: SiteQuality
SIO_000300: -4.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.84e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.16e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

FS
type: SiteQuality
SIO_000300: 4.209e0

MQ
type: SiteQuality
SIO_000300: 5.438e1

GenotypeQuality
all individuals: 55824
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.165228113440197e-4
allele num: 9732
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518095700752976e-5
allele num: 65872
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

FS
type: SiteQuality
SIO_000300: 3.832e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 9.844291e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.251e1

MQRankSum
type: SiteQuality
SIO_000300: -7.656e0

VQSLOD
type: SiteQuality
SIO_000300: -7.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.241e0

GenotypeQuality
all individuals: 524
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.96700143472023e-5
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.518326197200207e-4
allele num: 65862
num of homozygotes: 2

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

African
type: Population
allele count: 17
allele frequency: 1.749331138094258e-3
allele num: 9718
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.485130111524163e-4
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.283461679501283e-3
allele num: 16362
num of homozygotes: 5

MQ
type: SiteQuality
SIO_000300: 5.377e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.847e0

DP
type: SiteQuality
SIO_000300: 9.846114e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.84e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

QD
type: SiteQuality
SIO_000300: 1.127e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 524
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036652394400413e-5
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.84e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.846114e6

MQRankSum
type: SiteQuality
SIO_000300: -5.847e0

MQ
type: SiteQuality
SIO_000300: 5.377e1

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
all individuals: 1629
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518326197200206e-5
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.377e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -5.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 9.846114e6

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

GenotypeQuality
all individuals: 55828
bin: 9.75e1
variant carriers: 4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.808550185873606e-4
allele num: 8608
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 9.846336e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.441e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.261e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 84
allele frequency: 8.643753858818687e-3
allele num: 9718
num of homozygotes: 5

Latino
type: Population
allele count: 6
allele frequency: 5.380200860832137e-4
allele num: 11152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.858736059479554e-3
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.262443438914027e-3
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 2.933626696002934e-3
allele num: 16362
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.250926094613469e-4
allele num: 65868
num of homozygotes: 3

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
type: SiteQuality
SIO_000300: 1.665e1

FS
type: SiteQuality
SIO_000300: 1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.76e1

DP
type: SiteQuality
SIO_000300: 9.853269e6

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.02e-2

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.963786303334529e-5
allele num: 11156
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.435e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.281e0

QD
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 1.168e0

DP
type: SiteQuality
SIO_000300: 9.848454e6

MQ
type: SiteQuality
SIO_000300: 5.577e1

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.745e1

FS
type: SiteQuality
SIO_000300: 5.447e0

VQSLOD
type: SiteQuality
SIO_000300: -1.558e0

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.858e1

DP
type: SiteQuality
SIO_000300: 9.848618e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.585e0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.957e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.235e0

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.544e0

VQSLOD
type: SiteQuality
SIO_000300: -2.361e-1

DP
type: SiteQuality
SIO_000300: 9.848663e6

MQ
type: SiteQuality
SIO_000300: 5.898e1

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 18

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.585514521333812e-4
allele num: 11156
num of homozygotes: 1

African
type: Population
allele count: 10
allele frequency: 1.026904908605463e-3
allele num: 9738
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553734061930783e-5
allele num: 65880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.383e1

FS
type: SiteQuality
SIO_000300: 1.784e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

MQ
type: SiteQuality
SIO_000300: 5.711e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 9.849486e6

VQSLOD
type: SiteQuality
SIO_000300: -1.034e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.097863040310831e-4
allele num: 65888
num of homozygotes: 3

South Asian
type: Population
allele count: 11
allele frequency: 6.722894511673389e-4
allele num: 16362
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.382131324004305e-4
allele num: 11148
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 6.170300287947347e-3
allele num: 9724
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 9.851621e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 55816
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.374e0

MQRankSum
type: SiteQuality
SIO_000300: -4.334e0

FS
type: SiteQuality
SIO_000300: 6.099e0

QD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 9.846853e6

MQ
type: SiteQuality
SIO_000300: 5.716e1

VQSLOD
type: SiteQuality
SIO_000300: -6.205e0

GenotypeQuality
all individuals: 55817
bin: 9.75e1
variant carriers: 20

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55276656448235e-5
allele num: 65894
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.690100430416069e-4
allele num: 11152
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.55431993156544e-4
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 9.848062e6

MQ
type: SiteQuality
SIO_000300: 5.716e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.598e-1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.547029702970297e-4
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.428068471530897e-4
allele num: 65896
num of homozygotes: 3

Latino
type: Population
allele count: 2
allele frequency: 1.793400286944046e-4
allele num: 11152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.593e0

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: -8.984e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

DP
type: SiteQuality
SIO_000300: 9.848604e6

MQ
type: SiteQuality
SIO_000300: 5.711e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034993474764029e-5
allele num: 65898
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.080082135523614e-4
allele num: 9740
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

MQ
type: SiteQuality
SIO_000300: 5.786e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.525e0

FS
type: SiteQuality
SIO_000300: 1.115e0

DP
type: SiteQuality
SIO_000300: 9.848359e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517496737382015e-5
allele num: 65898
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.965393580778196e-5
allele num: 11154
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.525e0

MQ
type: SiteQuality
SIO_000300: 5.786e1

QD
type: SiteQuality
SIO_000300: 1.236e1

FS
type: SiteQuality
SIO_000300: 1.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 9.848359e6

GenotypeQuality
all individuals: 540
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.875e0

FS
type: SiteQuality
SIO_000300: 2.4822e1

QD
type: SiteQuality
SIO_000300: 2.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 9.848226e6

GenotypeQuality
all individuals: 540
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034625072072346e-5
allele num: 65906
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

DP
type: SiteQuality
SIO_000300: 9.848226e6

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

VQSLOD
type: SiteQuality
SIO_000300: -3.875e0

FS
type: SiteQuality
SIO_000300: 2.4822e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

QD
type: SiteQuality
SIO_000300: 2.106e1

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 150
allele frequency: 1.744186046511628e-2
allele num: 8600
num of homozygotes: 12

Latino
type: Population
allele count: 27
allele frequency: 2.422828427853554e-3
allele num: 11144
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 119
allele frequency: 1.806479035734888e-3
allele num: 65874
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 49
allele frequency: 7.585139318885449e-3
allele num: 6460
num of homozygotes: 4

African
type: Population
allele count: 263
allele frequency: 2.735593925525276e-2
allele num: 9614
num of homozygotes: 16

Other
type: Population
allele count: 4
allele frequency: 4.53514739229025e-3
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 380
allele frequency: 2.32615083251714e-2
allele num: 16336
num of homozygotes: 45

FS
type: SiteQuality
SIO_000300: 4.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.436e-1

DP
type: SiteQuality
SIO_000300: 9.905863e6

MQ
type: SiteQuality
SIO_000300: 5.385e1

MQRankSum
type: SiteQuality
SIO_000300: -6.03e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.117e0

VQSLOD
type: SiteQuality
SIO_000300: -2.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.188e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 9.839024e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.443494196701283e-4
allele num: 16370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

FS
type: SiteQuality
SIO_000300: 4.219e0

DP
type: SiteQuality
SIO_000300: 9.839395e6

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.733e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.816e1

VQSLOD
type: SiteQuality
SIO_000300: -1.948e0

FS
type: SiteQuality
SIO_000300: 1.3119e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 9.839223e6

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.054231717337716e-4
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.599e1

QD
type: SiteQuality
SIO_000300: 1.104e1

VQSLOD
type: SiteQuality
SIO_000300: -3.452e-1

DP
type: SiteQuality
SIO_000300: 9.839433e6

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.832620647525962e-4
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 9.839414e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 9.839414e6

GenotypeQuality
all individuals: 55779
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.839296e6

FS
type: SiteQuality
SIO_000300: 3.401e0

MQRankSum
type: SiteQuality
SIO_000300: -1.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.132e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.877e0

DP
type: SiteQuality
SIO_000300: 9.839422e6

FS
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.968e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.857e1

MQRankSum
type: SiteQuality
SIO_000300: -1.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 542
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.957362952346828e-5
allele num: 11164
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.083881578947368e-4
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.613e0

VQSLOD
type: SiteQuality
SIO_000300: -5.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

DP
type: SiteQuality
SIO_000300: 9.839124e6

MQ
type: SiteQuality
SIO_000300: 5.515e1

QD
type: SiteQuality
SIO_000300: 6.47e0

FS
type: SiteQuality
SIO_000300: 3.149e0

MQRankSum
type: SiteQuality
SIO_000300: -5.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.833068556764023e-4
allele num: 16366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.839443e6

VQSLOD
type: SiteQuality
SIO_000300: -1.864e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.693e1

FS
type: SiteQuality
SIO_000300: 1.101e0

QD
type: SiteQuality
SIO_000300: 1.516e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 55677
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 3
allele frequency: 3.114617940199335e-4
allele num: 9632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.999280057595392e-5
allele num: 11112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517496737382015e-5
allele num: 65898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

FS
type: SiteQuality
SIO_000300: 1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.209e0

DP
type: SiteQuality
SIO_000300: 9.861861e6

GenotypeQuality
all individuals: 55677
bin: 9.75e1
variant carriers: 460

Latino
type: Population
allele count: 79
allele frequency: 7.10943124550036e-3
allele num: 11112
num of homozygotes: 7

African
type: Population
allele count: 311
allele frequency: 3.228820598006645e-2
allele num: 9632
num of homozygotes: 29

East Asian
type: Population
allele count: 10
allele frequency: 1.161710037174721e-3
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 102
allele frequency: 1.547846672129655e-3
allele num: 65898
num of homozygotes: 6

Other
type: Population
allele count: 6
allele frequency: 6.787330316742082e-3
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.077731605964312e-3
allele num: 16364
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
SIO_000300: 5.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: -7.209e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 9.861861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

GenotypeQuality
all individuals: 55677
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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MQRankSum
type: SiteQuality
SIO_000300: -7.209e0

DP
type: SiteQuality
SIO_000300: 9.861861e6

MQ
type: SiteQuality
SIO_000300: 5.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 16
allele frequency: 1.648125257519571e-3
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.400473430244909e-4
allele num: 65902
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.86204418897072e-3
allele num: 11134
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.038865802982156e-3
allele num: 16364
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 9.877000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.115e0

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

DP
type: SiteQuality
SIO_000300: 9.838758e6

VQSLOD
type: SiteQuality
SIO_000300: -6.902e0

MQ
type: SiteQuality
SIO_000300: 5.528e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.150391429748661e-4
allele num: 9708
num of homozygotes: 1

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.838758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 9.877000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

MQ
type: SiteQuality
SIO_000300: 5.528e1

MQRankSum
type: SiteQuality
SIO_000300: -7.115e0

VQSLOD
type: SiteQuality
SIO_000300: -6.902e0

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 3
allele frequency: 3.088962108731466e-4
allele num: 9712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 9.83034e6

VQSLOD
type: SiteQuality
SIO_000300: -3.744e0

MQRankSum
type: SiteQuality
SIO_000300: -3.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

FS
type: SiteQuality
SIO_000300: 1.2901e1

MQ
type: SiteQuality
SIO_000300: 4.655e1

QD
type: SiteQuality
SIO_000300: 6.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 547
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.213665877783846e-4
allele num: 65916
num of homozygotes: 1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.457e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
type: SiteQuality
SIO_000300: 9.830816e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.102494083378845e-5
allele num: 65916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

DP
type: SiteQuality
SIO_000300: 9.830816e6

QD
type: SiteQuality
SIO_000300: 1.457e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 125
allele frequency: 1.896180334334517e-3
allele num: 65922
num of homozygotes: 12

Latino
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allele count: 11
allele frequency: 9.863701578192252e-4
allele num: 11152
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 4.639653572533251e-4
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.264978381717109e-4
allele num: 9714
num of homozygotes: 1

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

MQRankSum
type: SiteQuality
SIO_000300: -2.473e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.215e-1

DP
type: SiteQuality
SIO_000300: 9.839935e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.473e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.572e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.473e0

DP
type: SiteQuality
SIO_000300: 9.839935e6

MQ
type: SiteQuality
SIO_000300: 5.572e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.215e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.059308072487644e-4
allele num: 9712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.834723e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.822e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

East Asian
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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: 16366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
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allele count: 0
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allele num: 884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.234e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele num: 8608
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 884
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6466
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African
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South Asian
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allele count: 3
allele frequency: 1.833068556764023e-4
allele num: 16366
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

Latino
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.746e1

MQRankSum
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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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 884
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

African
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.746e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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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 frequency: 8.97021887334051e-5
allele num: 11148
num of homozygotes: 0

African
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allele count: 12
allele frequency: 1.236858379715523e-3
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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65908
num of homozygotes: 0

Latino
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allele count: 17
allele frequency: 1.525484565685571e-3
allele num: 11144
num of homozygotes: 0

East Asian
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allele frequency: 1.16198001394376e-4
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African
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allele count: 37
allele frequency: 3.820735233374639e-3
allele num: 9684
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
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allele frequency: 6.110975311659741e-5
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Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.835692e6

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.809900069718801e-4
allele num: 8606
num of homozygotes: 1

African
type: Population
allele count: 22
allele frequency: 2.271788517141677e-3
allele num: 9684
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.589375448671931e-4
allele num: 11144
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.05548765582987e-4
allele num: 16364
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.186259634642229e-4
allele num: 65908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.835692e6

MQ
type: SiteQuality
SIO_000300: 5.623e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.737e0

FS
type: SiteQuality
SIO_000300: 1.1075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.439999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.13e0

QD
type: SiteQuality
SIO_000300: 6.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-4
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 9.830849e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.802e1

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

GenotypeQuality
all individuals: 1595
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65904
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

FS
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

MQ
type: SiteQuality
SIO_000300: 5.802e1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 9.830849e6

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: -4.596e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 9.830782e6

FS
type: SiteQuality
SIO_000300: 1.757e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.888780249327792e-4
allele num: 16364
num of homozygotes: 2

East Asian
type: Population
allele count: 3
allele frequency: 3.48594004183128e-4
allele num: 8606
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

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

Latino
type: Population
allele count: 16
allele frequency: 1.436523612856886e-3
allele num: 11138
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.213923704895147e-4
allele num: 65902
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.238e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.969999999999999e-2

DP
type: SiteQuality
SIO_000300: 9.831381e6

FS
type: SiteQuality
SIO_000300: 2.506e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 55734
bin: 9.75e1
variant carriers: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.833068556764023e-4
allele num: 16366
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.163155720776538e-4
allele num: 9684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.177e1

DP
type: SiteQuality
SIO_000300: 9.829831e6

QD
type: SiteQuality
SIO_000300: 1.644e1

VQSLOD
type: SiteQuality
SIO_000300: -5.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e0

FS
type: SiteQuality
SIO_000300: 1.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.394e0

GenotypeQuality
all individuals: 533
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 156
allele frequency: 9.531956495172919e-3
allele num: 16366
num of homozygotes: 11

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.166356685265551e-4
allele num: 9678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.276176024279211e-4
allele num: 65900
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

QD
type: SiteQuality
SIO_000300: 1.355e1

DP
type: SiteQuality
SIO_000300: 9.835701e6

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705614e-5
allele num: 65900
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.695417789757413e-4
allele num: 11130
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

VQSLOD
type: SiteQuality
SIO_000300: -1.793e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 9.831139e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.984725965858041e-5
allele num: 11130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 6.197066721751704e-4
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.47e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -2.387e0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.647e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 9.831139e6

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.099173553719008e-4
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 2.547e0

MQ
type: SiteQuality
SIO_000300: 5.604e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.734e0

DP
type: SiteQuality
SIO_000300: 9.831067e6

QD
type: SiteQuality
SIO_000300: 1.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

South Asian
type: Population
allele count: 112
allele frequency: 6.843455945252352e-3
allele num: 16366
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.796299622777079e-4
allele num: 11134
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.033057851239669e-4
allele num: 9680
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.453e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 9.833767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.166e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.11e-2

GenotypeQuality
all individuals: 1620
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

FS
type: SiteQuality
SIO_000300: 1.737e0

DP
type: SiteQuality
SIO_000300: 9.831012e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.796299622777079e-4
allele num: 11134
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03327133705311e-4
allele num: 9678
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

FS
type: SiteQuality
SIO_000300: 1.737e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 9.831012e6

QD
type: SiteQuality
SIO_000300: 2.49e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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African
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allele frequency: 2.06654267410622e-4
allele num: 9678
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.54e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 884
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African
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allele count: 2
allele frequency: 2.066115702479339e-4
allele num: 9680
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65906
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Latino
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allele num: 11138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.830877e6

FS
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MQ
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 3

European (Non-Finnish)
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allele count: 44
allele frequency: 6.677390961240781e-4
allele num: 65894
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Latino
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allele count: 139
allele frequency: 1.24842823783007e-2
allele num: 11134
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African
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allele count: 1979
allele frequency: 2.044843976028105e-1
allele num: 9678
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Other
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allele count: 6
allele frequency: 6.787330316742082e-3
allele num: 884
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European (Finnish)
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allele count: 1
allele frequency: 1.547029702970297e-4
allele num: 6464
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South Asian
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allele frequency: 4.888182818037394e-4
allele num: 16366
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East Asian
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allele frequency: 2.32396002788752e-4
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DP
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.839e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 10
allele frequency: 6.110228522546743e-4
allele num: 16366
num of homozygotes: 2

Latino
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allele num: 11134
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.51758885482745e-5
allele num: 65894
num of homozygotes: 0

Other
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East Asian
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allele frequency: 2.32396002788752e-4
allele num: 8606
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.591e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.115e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65898
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Latino
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Other
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
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South Asian
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allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
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East Asian
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
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FS
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DP
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SIO_000300: 9.85802e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -1.443e0

VQSLOD
type: SiteQuality
SIO_000300: -7.21e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

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

African
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allele count: 0
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Other
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allele count: 0
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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.456e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.858073e6

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.635e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 1.827e1

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

East Asian
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allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.795654516071108e-4
allele num: 11138
num of homozygotes: 1

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 10
allele frequency: 6.110228522546743e-4
allele num: 16366
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.858073e6

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.795654516071108e-4
allele num: 11138
num of homozygotes: 1

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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

African
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Other
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East Asian
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South Asian
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allele frequency: 6.111722283339445e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65906
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DP
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele num: 9680
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European (Finnish)
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Latino
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allele frequency: 1.796299622777079e-4
allele num: 11134
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East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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variant carriers: 2

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65894
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Latino
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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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allele frequency: 0.0e0
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DP
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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African
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allele num: 9680
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6462
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South Asian
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Other
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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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